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
SPTBN1	6711	broad.mit.edu	37	2	54853248	54853248	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:54853248C>T	ENST00000333896.5	+	11	1867	c.1482C>T	c.(1480-1482)atC>atT	p.I494I	SPTBN1_ENST00000356805.4_Silent_p.I507I	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	507					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACAATGTCATCCGGCTCTGGG	0.572000													10	175					0	0	0.080935	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74203714	74203714	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:74203714T>A	ENST00000286523.5	-	3	2518	c.1736A>T	c.(1735-1737)gAt>gTt	p.D579V	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.D579V	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		AGCTTGAGCATCTGTCCCGGG	0.602000													10	63					0	0	0.080935	0	0
CTC1	80169	broad.mit.edu	37	17	8146359	8146359	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:8146359C>T	ENST00000315684.8	-	2	148	c.141G>A	c.(139-141)aaG>aaA	p.K47K	CTC1_ENST00000581671.1_Intron	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	47					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						ACCAGACAGTCTTCACACAAT	0.542000													4	25					0	0	0.009096	0	0
HOXD3	3232	broad.mit.edu	37	2	177036402	177036402	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:177036402C>T	ENST00000468418.3	+	4	2789	c.699C>T	c.(697-699)ctC>ctT	p.L233L	HOXD3_ENST00000410016.1_Silent_p.L233L|HOXD3_ENST00000249440.3_Silent_p.L233L			P31249	HXD3_HUMAN	homeobox D3	233					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		TGCTGAATCTCACGGAACGCC	0.587000													8	69					0	0	0.047766	0	0
MUC16	94025	broad.mit.edu	37	19	9089809	9089809	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:9089809T>A	ENST00000397910.4	-	1	2209	c.2006A>T	c.(2005-2007)aAg>aTg	p.K669M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	669	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATATGATGGCTTTGTCCCTCC	0.527000													101	162					0	0	0.048971	0	0
ROPN1B	152015	broad.mit.edu	37	3	125701153	125701153	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:125701153C>T	ENST00000514116.1	+	6	752	c.437C>T	c.(436-438)tCa>tTa	p.S146L	ROPN1B_ENST00000511082.1_Missense_Mutation_p.S54L|ROPN1B_ENST00000505382.1_Missense_Mutation_p.S54L|ROPN1B_ENST00000251776.4_Missense_Mutation_p.S146L			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	146					acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		GAGGTCTTATCATGTGACCAC	0.428000													8	90					0	0	0.058154	0	0
COQ10A	93058	broad.mit.edu	37	12	56661650	56661650	+	Silent	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:56661650G>C	ENST00000308197.5	+	2	468	c.207G>C	c.(205-207)tcG>tcC	p.S69S	COQ10A_ENST00000433805.2_Silent_p.S37S|RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000546544.1_Silent_p.S52S	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	69						mitochondrial inner membrane				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						GCTTACCTTCGAGCCGTTCCT	0.557000													7	44					0	0	0.069234	0	0
TGIF2LY	90655	broad.mit.edu	37	Y	3447318	3447318	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrY:3447318C>T	ENST00000559055.2	+	1	163	c.33C>T	c.(31-33)acC>acT	p.T11T	TGIF2LY_ENST00000321217.4_Silent_p.T11T			Q8IUE0	TF2LY_HUMAN	TGFB-induced factor homeobox 2-like, Y-linked	11						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|upper_aerodigestive_tract(1)	2						CGGCTGAGACCCAAAGCCCGG	0.507000													8	6					0	0	0.020292	0	0
C8orf37	157657	broad.mit.edu	37	8	96281381	96281381	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:96281381C>G	ENST00000286688.5	-	1	48	c.37G>C	c.(37-39)Gag>Cag	p.E13Q	KB-1047C11.2_ENST00000521905.1_lincRNA	NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	13										kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					AACTTGGACTCGACTTCATCC	0.592000											OREG0018873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	267					0	0	0.030593	0	0
GRHL2	79977	broad.mit.edu	37	8	102570809	102570809	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:102570809C>T	ENST00000251808.3	+	4	785	c.447C>T	c.(445-447)atC>atT	p.I149I	GRHL2_ENST00000395927.1_Silent_p.I133I	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	149						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GCTCTGCCATCATCCCGGTGT	0.527000													21	223					0	0	0.062417	0	0
ZNF350	59348	broad.mit.edu	37	19	52468935	52468935	+	Silent	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:52468935T>A	ENST00000243644.4	-	5	998	c.771A>T	c.(769-771)acA>acT	p.T257T	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	257					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		GTTTTTCTCCTGTATGAGTTC	0.428000													20	80					0	0	0.043863	0	0
CASP7	840	broad.mit.edu	37	10	115451722	115451722	+	Splice_Site	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:115451722G>C	ENST00000369321.2	+	2	312		c.e2-1		CASP7_ENST00000369318.3_Intron|CASP7_ENST00000369315.1_Splice_Site|CASP7_ENST00000345633.4_Intron|CASP7_ENST00000369331.4_Intron	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase						activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		tctgccagcagatgctgtaat	0.512000													7	44					0	0	0.029380	0	0
PLCE1	51196	broad.mit.edu	37	10	96005702	96005702	+	Splice_Site	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:96005702G>T	ENST00000260766.3	+	8	3054		c.e8-1		PLCE1_ENST00000371380.2_Splice_Site|PLCE1_ENST00000371375.1_Splice_Site|PLCE1_ENST00000371385.3_Splice_Site	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CTTTCCTTAAGGTTTATAATT	0.383000													9	25					1.58986e-06	1.84839e-06	0.069234	1	0
NEB	4703	broad.mit.edu	37	2	152553915	152553915	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:152553915G>A	ENST00000427231.2	-	15	1516	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	NEB_ENST00000409198.1_Silent_p.F438F|NEB_ENST00000603639.1_Silent_p.F438F|NEB_ENST00000397345.3_Silent_p.F438F|NEB_ENST00000172853.10_Silent_p.F438F|NEB_ENST00000604864.1_Silent_p.F438F	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	438					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGGATCCTCGAAGCTGCCTA	0.323000													10	321					0	0	0.105934	0	0
INTS4	92105	broad.mit.edu	37	11	77635798	77635798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:77635798C>T	ENST00000534064.1	-	12	1546	c.1512G>A	c.(1510-1512)tgG>tgA	p.W504*	INTS4_ENST00000529807.1_Nonsense_Mutation_p.W504*|INTS4_ENST00000525931.1_5'UTR	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	504					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			GTCATTACTTCCATATGGAGT	0.388000													13	59					0	0	0.024245	0	0
LRP1B	53353	broad.mit.edu	37	2	141460100	141460100	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:141460100C>A	ENST00000389484.3	-	38	7017	c.6046G>T	c.(6046-6048)Gga>Tga	p.G2016*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2016					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCATTTGTCCCCATTCAGTC	0.408000										TSP Lung(27;0.18)			11	50					0.00829132	0.00873392	0.069234	1	0
MIR519A2	574500	broad.mit.edu	37	19	54265661	54265661	+	RNA	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:54265661C>A	ENST00000384990.1	+	0	64					NR_030222.1																						AAAGTGCATCCTTTTAGAGTG	0.418000													43	153					1.48646e-12	1.90473e-12	0.039052	1	0
PROL1	58503	broad.mit.edu	37	4	71275486	71275486	+	Silent	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:71275486C>G	ENST00000399575.2	+	3	615	c.441C>G	c.(439-441)acC>acG	p.T147T	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	147	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TAAACATCACCACCGCAGATA	0.448000													23	93					0	0	0.062417	0	0
OR10X1	128367	broad.mit.edu	37	1	158549249	158549249	+	Silent	SNP	T	T	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:158549249T>C	ENST00000368150.1	-	1	440	c.441A>G	c.(439-441)agA>agG	p.R147R		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GCAGTGGATATCTTAGAGGGT	0.453000													18	77					0	0	0.083992	0	0
APOBEC1	339	broad.mit.edu	37	12	7805422	7805422	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:7805422G>T	ENST00000229304.4	-	3	74	c.54C>A	c.(52-54)atC>atA	p.I18I		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	18					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CCCAGGGTTCGATTCTTCTCC	0.448000													5	45					0.00116845	0.00124859	0.021553	1	0
ADAM19	8728	broad.mit.edu	37	5	156940497	156940497	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:156940497C>T	ENST00000257527.4	-	8	761	c.683G>A	c.(682-684)cGa>cAa	p.R228Q	ADAM19_ENST00000517905.1_Missense_Mutation_p.R228Q|ADAM19_ENST00000394020.1_Missense_Mutation_p.R230Q|ADAM19_ENST00000430702.2_5'UTR	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	228	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCCTGGTCTCGTCGATTCTT	0.493000													4	69					0	0	0.014758	0	0
MCCC1	56922	broad.mit.edu	37	3	182759420	182759420	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:182759420G>A	ENST00000492597.1	-	10	1577	c.875C>T	c.(874-876)cCa>cTa	p.P292L	MCCC1_ENST00000265594.4_Missense_Mutation_p.P401L|MCCC1_ENST00000539926.1_Missense_Mutation_p.P266L			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	401	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GTGCACTAATGGGCCTGCCAC	0.458000													4	74					0	0	0.009096	0	0
ABHD4	63874	broad.mit.edu	37	14	23072500	23072500	+	Silent	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:23072500G>C	ENST00000428304.2	+	3	388	c.318G>C	c.(316-318)ggG>ggC	p.G106G	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	106					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		TTGGCTTCGGGCGAAGCTCAA	0.607000													7	53					0	0	0.029380	0	0
GCM1	8521	broad.mit.edu	37	6	52993488	52993488	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:52993488C>A	ENST00000259803.7	-	6	1038	c.827G>T	c.(826-828)aGt>aTt	p.S276I		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	276						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CAGGTCTCCACTACTGTAGGT	0.498000													5	43					0.0215528	0.0222597	0.021553	1	0
TFE3	7030	broad.mit.edu	37	X	48891690	48891690	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:48891690G>A	ENST00000315869.7	-	6	1221	c.962C>T	c.(961-963)tCc>tTc	p.S321F	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	321					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						AGCTGGGCAGGAGTTGCTGAC	0.587000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								4	14					0	0	0.021553	0	0
TXK	7294	broad.mit.edu	37	4	48115327	48115327	+	Splice_Site	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:48115327C>G	ENST00000264316.4	-	3	157		c.e3-1		TXK_ENST00000510457.1_Splice_Site	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase							cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TCTCATTTGTCTGACATTGAA	0.383000													7	89					0	0	0.038147	0	0
ADAR	103	broad.mit.edu	37	1	154575013	154575013	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:154575013G>A	ENST00000368474.4	-	2	304	c.105C>T	c.(103-105)tcC>tcT	p.S35S	ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Silent_p.S78S	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	35					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		AACTACTGGGGGAAGATCCTG	0.532000													39	155					0	0	0.092188	0	0
WWTR1	25937	broad.mit.edu	37	3	149245727	149245727	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:149245727C>A	ENST00000465804.1	-	6	1057	c.801G>T	c.(799-801)atG>atT	p.M267I	WWTR1_ENST00000467467.1_Missense_Mutation_p.M267I|WWTR1_ENST00000360632.3_Missense_Mutation_p.M267I	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	267					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCTCAGCTTCCATGGGGAGCT	0.507000			T	CAMTA1	epitheliod hemangioendothelioma								85	112					5.42381e-49	7.55149e-49	0.048971	1	0
CCM2L	140706	broad.mit.edu	37	20	30617580	30617580	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:30617580C>A	ENST00000262659.8	+	8	1282	c.1277C>A	c.(1276-1278)tCc>tAc	p.S426Y	RP1-310O13.7_ENST00000449519.1_RNA|CCM2L_ENST00000300415.8_Silent_p.I447I	NM_080625.3	NP_542192.2			cerebral cavernous malformation 2-like																		GGCTGCCCATCCAGGACTATT	0.637000													21	36					3.83957e-06	4.40509e-06	0.076483	1	0
SNHG14	104472715	broad.mit.edu	37	15	25451484	25451484	+	RNA	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:25451484G>A	ENST00000424208.1	+	0	2384				SNORD115-20_ENST00000365099.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1																						GGATTATGCTGAGGCCCAGTC	0.478000													4	40					0	0	0.009096	0	0
KLHDC2	23588	broad.mit.edu	37	14	50246943	50246943	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:50246943C>T	ENST00000298307.5	+	9	1647	c.786C>T	c.(784-786)ggC>ggT	p.G262G	KLHDC2_ENST00000554589.1_Silent_p.G262G|KLHDC2_ENST00000557247.1_Silent_p.G262G	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	262						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					TTCCACAAGGCATATGCCCAG	0.338000													24	82					0	0	0.108266	0	0
KYNU	8942	broad.mit.edu	37	2	143643024	143643024	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:143643024G>T	ENST00000264170.4	+	2	346	c.88G>T	c.(88-90)Gct>Tct	p.A30S	KYNU_ENST00000410015.2_Missense_Mutation_p.A30S|KYNU_ENST00000409512.1_Missense_Mutation_p.A30S|KYNU_ENST00000375773.2_Missense_Mutation_p.A30S	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	30					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TGAGAGGGTGGCTCTCCACCT	0.507000													8	22					1.12685e-05	1.27308e-05	0.047766	1	0
TCF7	6932	broad.mit.edu	37	5	133482071	133482071	+	Silent	SNP	T	T	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:133482071T>C	ENST00000395029.1	+	11	1500	c.1305T>C	c.(1303-1305)acT>acC	p.T435T	TCF7_ENST00000520958.1_3'UTR|TCF7_ENST00000378560.4_3'UTR|TCF7_ENST00000432532.2_Silent_p.T320T|TCF7_ENST00000395023.1_3'UTR|TCF7_ENST00000342854.5_3'UTR			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	180					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AACTGCTTACTAGCCCTGCGG	0.662000											OREG0016787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	34					0	0	0.021553	0	0
CASR	846	broad.mit.edu	37	3	121994736	121994736	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:121994736G>A	ENST00000498619.1	+	5	1893	c.1455G>A	c.(1453-1455)ctG>ctA	p.L485L	CASR_ENST00000296154.5_Silent_p.L485L|CASR_ENST00000490131.1_Silent_p.L485L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	485					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.L485L(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GTGGTGACCTGGTGGGGAACT	0.488000													11	224					0	0	0.069234	0	0
LINC00303	284573	broad.mit.edu	37	1	204006319	204006319	+	RNA	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:204006319G>A	ENST00000367207.3	-	0	701																											CCTGCTGGCTGAGGAAGGGAT	0.527000													6	6					0	0	0.029380	0	0
BTBD11	121551	broad.mit.edu	37	12	108051342	108051342	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:108051342G>A	ENST00000280758.5	+	17	3690	c.3162G>A	c.(3160-3162)atG>atA	p.M1054I	BTBD11_ENST00000420571.2_Missense_Mutation_p.M935I|BTBD11_ENST00000494235.2_Missense_Mutation_p.M133I|BTBD11_ENST00000357167.4_Missense_Mutation_p.M591I	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1054						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCAAAAACATGATGGTCCTCA	0.483000													5	47					0	0	0.021553	0	0
NLRP12	91662	broad.mit.edu	37	19	54314470	54314470	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:54314470C>A	ENST00000324134.6	-	3	611	c.443G>T	c.(442-444)gGg>gTg	p.G148V	NLRP12_ENST00000354278.3_Missense_Mutation_p.G148V|NLRP12_ENST00000345770.5_Missense_Mutation_p.G148V|NLRP12_ENST00000351894.4_Missense_Mutation_p.G148V|NLRP12_ENST00000391775.3_Missense_Mutation_p.G148V|NLRP12_ENST00000391772.1_Missense_Mutation_p.G148V|NLRP12_ENST00000391773.1_Missense_Mutation_p.G148V|NLRP12_ENST00000535162.1_Missense_Mutation_p.G148V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	148					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GACACATTCCCCTAGGCGCGC	0.587000													8	84					1.12685e-05	1.27308e-05	0.047766	1	0
CATSPERG	57828	broad.mit.edu	37	19	38849157	38849157	+	Silent	SNP	G	G	A	rs147779129	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:38849157G>A	ENST00000409235.3	+	13	1567	c.1452G>A	c.(1450-1452)ccG>ccA	p.P484P	CATSPERG_ENST00000215069.4_Silent_p.P477P|CATSPERG_ENST00000410018.1_Silent_p.P444P	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	484					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TCTGTAACCCGTACAACAATC	0.567000													10	117					0	0	0.069234	0	0
SLC4A4	8671	broad.mit.edu	37	4	72306384	72306384	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:72306384G>A	ENST00000340595.3	+	5	923	c.727G>A	c.(727-729)Gtg>Atg	p.V243M	SLC4A4_ENST00000512686.1_Missense_Mutation_p.V243M|SLC4A4_ENST00000264485.5_Missense_Mutation_p.V287M|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.V287M|SLC4A4_ENST00000351898.6_Missense_Mutation_p.V287M	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	287						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AGCTTCCAACGTGCTTGTTGG	0.463000													6	70					0	0	0.021553	0	0
DTWD2	285605	broad.mit.edu	37	5	118176764	118176764	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:118176764G>A	ENST00000304058.4	-	6	617	c.547C>T	c.(547-549)Caa>Taa	p.Q183*	DTWD2_ENST00000515439.3_Nonsense_Mutation_p.Q153*|DTWD2_ENST00000510708.1_Nonsense_Mutation_p.Q249*			Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	249										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		CATAAAGCTTGAAGAGGGCGA	0.368000													3	26					0	0	0.009096	0	0
OR8U1	219417	broad.mit.edu	37	11	56143558	56143558	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:56143558C>A	ENST00000302270.1	+	1	459	c.459C>A	c.(457-459)ttC>ttA	p.F153L		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					GCTATAGCTTCCTAATGGCAC	0.438000													33	73					2.61193e-14	3.38499e-14	0.041601	1	0
TIGD3	220359	broad.mit.edu	37	11	65123348	65123348	+	Silent	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:65123348C>G	ENST00000309880.5	+	2	276	c.69C>G	c.(67-69)ctC>ctG	p.L23L		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	23	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TGCTGGAACTCCTGGATGAGT	0.612000													3	33					0	0	0.004672	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33411147	33411147	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:33411147G>C	ENST00000418600.2	+	15	2919	c.2818G>C	c.(2818-2820)Ggt>Cgt	p.G940R	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.G881R|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.G940R|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	940					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TGATGGGCCAGGTCCCCCAGG	0.662000													16	237					0	0	0.062417	0	0
TPTE2	93492	broad.mit.edu	37	13	20010405	20010405	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:20010405G>A	ENST00000400230.2	-	15	1121	c.1077C>T	c.(1075-1077)acC>acT	p.T359T	TPTE2_ENST00000255310.6_Silent_p.T282T|TPTE2_ENST00000457266.2_Silent_p.T248T|TPTE2_ENST00000400103.2_Silent_p.T248T|TPTE2_ENST00000390680.2_Silent_p.T282T|TPTE2_ENST00000382975.4_Silent_p.T319T|TPTE2_ENST00000382978.1_Silent_p.T319T|TPTE2_ENST00000382977.4_Silent_p.T359T			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	359	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TATTGCTGTGGGTTTTATTGG	0.373000													6	48					0	0	0.029380	0	0
NLRP2	55655	broad.mit.edu	37	19	55512228	55512228	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:55512228T>A	ENST00000543010.1	+	13	3294	c.3151T>A	c.(3151-3153)Tgg>Agg	p.W1051R	NLRP2_ENST00000427260.2_Missense_Mutation_p.W1028R|NLRP2_ENST00000391721.4_Missense_Mutation_p.W1027R|NLRP2_ENST00000448584.2_Missense_Mutation_p.W1051R|NLRP2_ENST00000263437.6_Missense_Mutation_p.W1048R|NLRP2_ENST00000339757.7_Missense_Mutation_p.W1029R|NLRP2_ENST00000537859.1_Missense_Mutation_p.W1029R|NLRP2_ENST00000538819.1_Missense_Mutation_p.W1027R	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	1051					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACATCATCCCTGGGCAGAAAG	0.408000													25	35					0	0	0.050027	0	0
TINAG	27283	broad.mit.edu	37	6	54173469	54173469	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:54173469G>T	ENST00000259782.4	+	1	217	c.121G>T	c.(121-123)Gtt>Ttt	p.V41F	TINAG_ENST00000370864.3_Missense_Mutation_p.V23F|TINAG_ENST00000370869.3_Missense_Mutation_p.V37F|TINAG_ENST00000486436.1_3'UTR	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	41					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GAATCACACCGTTTTGCAAGG	0.398000													134	230					3.71976e-56	5.18873e-56	0.048971	1	0
PRRC2A	7916	broad.mit.edu	37	6	31598920	31598920	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:31598920G>A	ENST00000376033.2	+	16	2704	c.2470G>A	c.(2470-2472)Gag>Aag	p.E824K	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E824K	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	824	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTTCAGGAGCGAGACTCCTCC	0.488000													11	165					0	0	0.069234	0	0
OR2G2	81470	broad.mit.edu	37	1	247752138	247752138	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:247752138C>A	ENST00000320065.1	+	1	477	c.477C>A	c.(475-477)acC>acA	p.T159T	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAGCCACCACCCTGGTACAGT	0.547000													47	142					4.78724e-31	6.60309e-31	0.048971	1	0
SIGLEC12	89858	broad.mit.edu	37	19	52004653	52004653	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:52004653C>T	ENST00000291707.3	-	1	390	c.335G>A	c.(334-336)aGa>aAa	p.R112K		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	112	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ATCACTCTCTCTGGTGTCTCT	0.488000													23	139					0	0	0.076483	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103450009	103450009	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:103450009C>A	ENST00000361246.2	-	7	1063	c.775G>T	c.(775-777)Ggg>Tgg	p.G259W		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	259	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CACTCAGGCCCGTATTTGCCC	0.577000													12	49					1.99824e-07	2.37541e-07	0.033300	1	0
RYK	6259	broad.mit.edu	37	3	133913963	133913963	+	Silent	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:133913963C>G	ENST00000427044.2	-	8	886	c.276G>C	c.(274-276)ctG>ctC	p.L92L	RYK_ENST00000296084.4_Silent_p.L282L			P34925	RYK_HUMAN	receptor-like tyrosine kinase	281	WIF.				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						TGTCTGCTCTCAGATACTGAG	0.443000													5	100					0	0	0.021553	0	0
RIOK3	8780	broad.mit.edu	37	18	21053585	21053585	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr18:21053585C>T	ENST00000339486.3	+	8	1625	c.1008C>T	c.(1006-1008)ctC>ctT	p.L336L	RIOK3_ENST00000581585.1_Silent_p.L320L|RIOK3_ENST00000577501.1_Silent_p.L336L	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	336	Protein kinase.		L -> V (in dbSNP:rs35401850).		chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCACAATCTCGCAAGGTAAA	0.318000													4	25					0	0	0.014758	0	0
AKAP12	9590	broad.mit.edu	37	6	151670260	151670260	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:151670260G>A	ENST00000402676.2	+	4	974	c.734G>A	c.(733-735)cGt>cAt	p.R245H	AKAP12_ENST00000253332.1_Missense_Mutation_p.R245H|AKAP12_ENST00000359755.5_Missense_Mutation_p.R140H|AKAP12_ENST00000354675.6_Missense_Mutation_p.R147H|AKAP12_ENST00000490177.1_3'UTR	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	245					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ACCCTGAAGCGTGAGCAAAGC	0.527000													10	127					0	0	0.080935	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971047	21971047	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:21971047A>T	ENST00000304494.5	-	2	581	c.311T>A	c.(310-312)cTg>cAg	p.L104Q	CDKN2A_ENST00000361570.3_Silent_p.A159A|CDKN2A_ENST00000494262.1_Missense_Mutation_p.L53Q|CDKN2A_ENST00000446177.1_Missense_Mutation_p.L104Q|CDKN2A_ENST00000498124.1_Missense_Mutation_p.L104Q|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Silent_p.A118A|CDKN2A_ENST00000479692.2_Missense_Mutation_p.L53Q|CDKN2A_ENST00000497750.1_Missense_Mutation_p.L53Q|CDKN2A_ENST00000578845.2_Missense_Mutation_p.L53Q|CDKN2A_ENST00000498628.2_Missense_Mutation_p.L53Q|CDKN2A_ENST00000579122.1_Missense_Mutation_p.L104Q|CDKN2A_ENST00000579755.1_Silent_p.A118A	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	104			Missing.		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.0(1)|p.T93_D105del(1)|p.A68fs*3(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCGCACGTCCAGCCGCGCCCC	0.751000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			3	12					0	0	0.014758	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718440	103718440	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:103718440C>T	ENST00000245312.3	-	1	756	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	54					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTCTTGATTTCCACGTTGCAT	0.488000													36	237					0	0	0.074837	0	0
GRIA2	2891	broad.mit.edu	37	4	158284002	158284002	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:158284002C>A	ENST00000296526.7	+	15	2783	c.2458C>A	c.(2458-2460)Ctt>Att	p.L820I	GRIA2_ENST00000393815.2_Missense_Mutation_p.L773I|GRIA2_ENST00000507898.1_Missense_Mutation_p.L773I|GRIA2_ENST00000449365.1_Missense_Mutation_p.L773I|GRIA2_ENST00000264426.9_Missense_Mutation_p.L820I	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	820					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATTCTACATCCTTGTCGGGGG	0.468000													7	61					0.00307968	0.00326733	0.038147	1	0
KRTAP22-1	337979	broad.mit.edu	37	21	31973527	31973527	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr21:31973527G>T	ENST00000334680.2	+	1	114	c.88G>T	c.(88-90)Ggc>Tgc	p.G30C		NM_181620.1	NP_853651.1	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	30						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						TAGCGGCTATGGCTATGCCTG	0.478000													17	74					2.39556e-15	3.12925e-15	0.076483	1	0
TRIM8	81603	broad.mit.edu	37	10	104414408	104414408	+	Splice_Site	SNP	A	A	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:104414408A>G	ENST00000302424.6	+	2	692		c.e2-1		TRIM8_ENST00000487927.1_Splice_Site	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8							cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ATGTCCCTGCAGAAGATGCTC	0.557000													46	196					0	0	0.048971	0	0
VN1R2	317701	broad.mit.edu	37	19	53762283	53762283	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:53762283T>A	ENST00000341702.3	+	1	739	c.655T>A	c.(655-657)Ttc>Atc	p.F219I		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	219					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		GTGCTGGGCCTTCCACATGCT	0.458000													12	38					0	0	0.093190	0	0
TG	7038	broad.mit.edu	37	8	134031879	134031879	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:134031879C>T	ENST00000220616.4	+	39	6855	c.6815C>T	c.(6814-6816)tCc>tTc	p.S2272F	TG_ENST00000377869.1_Missense_Mutation_p.S2215F|TG_ENST00000542445.1_Missense_Mutation_p.S642F|TG_ENST00000519543.1_Missense_Mutation_p.S405F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2272					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACCAGAACATCCACGTCTCCT	0.532000													20	38					0	0	0.055883	0	0
NFRKB	4798	broad.mit.edu	37	11	129743800	129743800	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:129743800G>C	ENST00000446488.3	-	21	2493	c.2390C>G	c.(2389-2391)tCt>tGt	p.S797C	NFRKB_ENST00000524746.1_Missense_Mutation_p.S797C|NFRKB_ENST00000524794.1_Missense_Mutation_p.S822C|NFRKB_ENST00000304521.5_Missense_Mutation_p.S797C	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	797	Ser-rich.				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		AGCAGAGCCAGAGTGGCTCAC	0.617000													11	13					0	0	0.024245	0	0
ATP10A	57194	broad.mit.edu	37	15	25925268	25925268	+	Splice_Site	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:25925268C>T	ENST00000356865.6	-	20	3977	c.3866_splice	c.e20+1	p.R1289_splice		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1289					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGACACCCACCTGGGCAGCAG	0.562000													8	58					0	0	0.038147	0	0
GOLGA3	2802	broad.mit.edu	37	12	133357422	133357422	+	Missense_Mutation	SNP	C	C	G	rs138371674	byFrequency	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:133357422C>G	ENST00000204726.3	-	18	4102	c.3544G>C	c.(3544-3546)Gag>Cag	p.E1182Q	GOLGA3_ENST00000450791.2_Missense_Mutation_p.E1182Q|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E1182Q	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1182					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TTCTCCTTCTCTAGTGAGGCC	0.557000													12	66					0	0	0.080935	0	0
ARSF	416	broad.mit.edu	37	X	2990082	2990082	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:2990082C>T	ENST00000381127.1	+	3	248	c.27C>T	c.(25-27)ttC>ttT	p.F9F	ARSF_ENST00000359361.2_Silent_p.F9F|ARSF_ENST00000537104.1_Silent_p.F9F	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	9						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTTGGTCTTCATGTCTTTGG	0.493000													6	39					0	0	0.038147	0	0
SV2B	9899	broad.mit.edu	37	15	91832754	91832754	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:91832754G>T	ENST00000394232.1	+	12	2182	c.1712G>T	c.(1711-1713)gGc>gTc	p.G571V	SV2B_ENST00000330276.4_Missense_Mutation_p.G571V|SV2B_ENST00000545111.2_Missense_Mutation_p.G420V	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	571					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TCTGCAGGTGGCTCCATGCTA	0.522000													11	79					6.40141e-05	7.07022e-05	0.080935	1	0
ASH1L	55870	broad.mit.edu	37	1	155324277	155324277	+	Silent	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:155324277C>G	ENST00000368346.3	-	16	7854	c.7215G>C	c.(7213-7215)ggG>ggC	p.G2405G	ASH1L_ENST00000392403.3_Silent_p.G2400G			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2405					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACTTGATATTCCCATCATCTC	0.413000													24	216					0	0	0.108266	0	0
CCDC65	85478	broad.mit.edu	37	12	49315155	49315155	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:49315155C>G	ENST00000266984.5	+	8	1611	c.1384C>G	c.(1384-1386)Caa>Gaa	p.Q462E	ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Missense_Mutation_p.Q462E			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	462										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGTCAACTATCAAAGCAACTT	0.458000													5	64					0	0	0.029380	0	0
OR8B2	26595	broad.mit.edu	37	11	124252847	124252847	+	Silent	SNP	C	C	G	rs141423425		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:124252847C>G	ENST00000375013.2	-	1	411	c.393G>C	c.(391-393)ctG>ctC	p.L131L		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TGACCTTATACAGCAATGGAT	0.458000													10	58					0	0	0.058154	0	0
CUZD1	50624	broad.mit.edu	37	10	124596455	124596455	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:124596455C>T	ENST00000368904.1	-	7	1658	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	CUZD1_ENST00000392790.1_Missense_Mutation_p.E237K|CUZD1_ENST00000545804.1_Missense_Mutation_p.E237K			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	237	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		p.E237K(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GATGACGATTCGAAGGTGGGA	0.453000													8	46					0	0	0.038147	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171565	68171565	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:68171565T>A	ENST00000243457.3	+	2	768	c.385T>A	c.(385-387)Ttc>Atc	p.F129I	KCNJ2_ENST00000535240.1_Missense_Mutation_p.F129I	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	129					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GGTCAACAGCTTCACGGCTGC	0.498000													29	91					0	0	0.045705	0	0
TM9SF4	9777	broad.mit.edu	37	20	30729322	30729322	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:30729322G>A	ENST00000217315.5	+	4	541	c.201G>A	c.(199-201)cgG>cgA	p.R67R	TM9SF4_ENST00000398022.2_Silent_p.R84R			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	84						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGGGGACCGGATTGTCAACA	0.547000													11	36					0	0	0.069234	0	0
RBFOX1	54715	broad.mit.edu	37	16	7383005	7383005	+	Translation_Start_Site	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:7383005G>C	ENST00000355637.4	+	1	255	c.3G>C	c.(1-3)atG>atC	p.M1I	RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000311745.5_Start_Codon_SNP_p.M1I|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000436368.2_Start_Codon_SNP_p.M1I|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000340209.4_5'UTR|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000535565.2_Intron	NM_145893.2	NP_665900.1	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	0					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CGTAAAGCATGCTGGCGTCTC	0.473000													19	256					0	0	0.069288	0	0
LMX1A	4009	broad.mit.edu	37	1	165173117	165173117	+	Nonstop_Mutation	SNP	T	T	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:165173117T>C	ENST00000342310.3	-	9	1531	c.1149A>G	c.(1147-1149)tgA>tgG	p.*383W	LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_Nonstop_Mutation_p.*383W|LMX1A_ENST00000294816.2_Nonstop_Mutation_p.*383W	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AGGGGAAGACTCAAGATGTGA	0.502000													16	50					0	0	0.028581	0	0
ZNF761	388561	broad.mit.edu	37	19	53958156	53958156	+	RNA	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:53958156G>C	ENST00000454407.1	+	0	848							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AGTCATGCTAGAAACAAGCCT	0.368000													5	106					0	0	0.021553	0	0
OR10X1	128367	broad.mit.edu	37	1	158548743	158548743	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:158548743C>G	ENST00000368150.1	-	1	946	c.947G>C	c.(946-948)aGa>aCa	p.R316T		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TCCCATCATTCTTCTAAAAGC	0.418000													22	149					0	0	0.076483	0	0
ATP2B1	490	broad.mit.edu	37	12	90028903	90028903	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:90028903C>G	ENST00000428670.3	-	4	988	c.532G>C	c.(532-534)Gaa>Caa	p.E178Q	ATP2B1_ENST00000348959.3_Missense_Mutation_p.E178Q|ATP2B1_ENST00000261173.2_Missense_Mutation_p.E178Q|ATP2B1_ENST00000359142.3_Missense_Mutation_p.E178Q			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	178					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AACTGTTTTTCCTTACTCCAG	0.443000													5	90					0	0	0.029380	0	0
ARHGAP5	394	broad.mit.edu	37	14	32563450	32563450	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:32563450A>C	ENST00000345122.3	+	2	3890	c.3575A>C	c.(3574-3576)cAt>cCt	p.H1192P	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H1192P|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H1192P|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H1192P	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1192					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AAAGGAAGACATCGTGGAAGT	0.388000													55	127					0	0	0.048971	0	0
BAZ2B	29994	broad.mit.edu	37	2	160289774	160289774	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:160289774G>C	ENST00000392783.2	-	9	1889	c.1394C>G	c.(1393-1395)tCt>tGt	p.S465C	BAZ2B_ENST00000343439.5_Missense_Mutation_p.S463C|BAZ2B_ENST00000392782.1_Missense_Mutation_p.S463C|BAZ2B_ENST00000355831.2_Missense_Mutation_p.S465C	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGGTGAACTAGAGGTTGCTTT	0.378000													12	286					0	0	0.093190	0	0
OPRK1	4986	broad.mit.edu	37	8	54141892	54141892	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:54141892G>T	ENST00000265572.3	-	4	1405	c.1108C>A	c.(1108-1110)Ctg>Atg	p.L370M	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.L370M|OPRK1_ENST00000524278.1_Missense_Mutation_p.L281M	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	370					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	ATGTCCCTCAGGTAAGCAGGA	0.483000													20	25					1.50039e-11	1.89146e-11	0.062417	1	0
GAPDHS	26330	broad.mit.edu	37	19	36027890	36027890	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:36027890T>A	ENST00000222286.4	+	2	359	c.243T>A	c.(241-243)aaT>aaA	p.N81K		NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	81					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	TGGGCATCAATGGGTGAGTCT	0.602000													5	50					0	0	0.021553	0	0
SPATA18	132671	broad.mit.edu	37	4	52927052	52927052	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:52927052C>A	ENST00000295213.4	+	3	672	c.298C>A	c.(298-300)Ccc>Acc	p.P100T	SPATA18_ENST00000419395.2_Missense_Mutation_p.P100T|SPATA18_ENST00000506829.1_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	100					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CAGCAAGGTCCCCTCTCTGCA	0.463000													4	53					0.00024832	0.000270828	0.009096	1	0
RPS6KA2	6196	broad.mit.edu	37	6	166923836	166923836	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:166923836C>A	ENST00000510118.1	-	6	723	c.383G>T	c.(382-384)cGa>cTa	p.R128L	RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.R14L|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.R103L|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.R14L|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.R111L			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	103	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CGATCTCACTCGGTCCCGAAC	0.403000													6	51					0.00307968	0.00326733	0.038147	1	0
DYSF	8291	broad.mit.edu	37	2	71791294	71791294	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:71791294C>T	ENST00000258104.3	+	24	2739	c.2462C>T	c.(2461-2463)gCc>gTc	p.A821V	DYSF_ENST00000409744.1_Missense_Mutation_p.A808V|DYSF_ENST00000410041.1_Missense_Mutation_p.A839V|DYSF_ENST00000409651.1_Missense_Mutation_p.A853V|DYSF_ENST00000409762.1_Missense_Mutation_p.A838V|DYSF_ENST00000409366.1_Missense_Mutation_p.A822V|DYSF_ENST00000394120.2_Missense_Mutation_p.A822V|DYSF_ENST00000409582.3_Missense_Mutation_p.A838V|DYSF_ENST00000429174.2_Missense_Mutation_p.A821V|DYSF_ENST00000413539.2_Missense_Mutation_p.A852V|DYSF_ENST00000410020.3_Missense_Mutation_p.A839V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	821						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGGCGGGGTGCCAACTACTGT	0.522000													6	86					0	0	0.021553	0	0
RBP1	5947	broad.mit.edu	37	3	139237323	139237323	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:139237323C>T	ENST00000232219.2	-	3	590	c.480G>A	c.(478-480)caG>caA	p.Q160Q	RP11-319G6.1_ENST00000515247.1_RNA	NM_002899.3	NP_002890.2	P09455	RET1_HUMAN	retinol binding protein 1, cellular	98						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	TCTCACCCTTCTGCACACACT	0.617000													4	58					0	0	0.014758	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501962	140501962	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:140501962C>T	ENST00000194152.1	+	1	382	c.382C>T	c.(382-384)Cac>Tac	p.H128Y		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		128	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATAAATGATCACTCTCCAAT	0.418000													7	41					0	0	0.029380	0	0
GNA12	2768	broad.mit.edu	37	7	2802292	2802292	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:2802292G>A	ENST00000407653.1	-	1	482	c.231C>T	c.(229-231)ctC>ctT	p.L77L	GNA12_ENST00000407904.3_Intron|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000396960.3_Silent_p.L5L|GNA12_ENST00000544127.1_Intron|GNA12_ENST00000275364.3_Intron|GNA12_ENST00000491117.1_Intron			Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	149					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GCAGGACGATGAGAGGATAAA	0.532000													3	19					0	0	0.004672	0	0
TMEM213	155006	broad.mit.edu	37	7	138522652	138522652	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:138522652C>T	ENST00000413208.1	+	3	286	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	KIAA1549_ENST00000440172.1_Silent_p.*1935*|KIAA1549_ENST00000422774.1_Silent_p.*1951*|KIAA1549_ENST00000242365.4_Silent_p.*1885*			A2RRL7	TM213_HUMAN	transmembrane protein 213	0						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(1)	6						CGAGGCCGATCAGCTGTGGAA	0.562000													3	9					0	0	0.009096	0	0
GREB1	9687	broad.mit.edu	37	2	11716528	11716528	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:11716528C>T	ENST00000381486.2	+	5	804	c.504C>T	c.(502-504)ttC>ttT	p.F168F	GREB1_ENST00000381483.2_Silent_p.F168F|GREB1_ENST00000263834.5_Silent_p.F168F|GREB1_ENST00000234142.5_Silent_p.F168F|GREB1_ENST00000389825.3_Silent_p.F58F	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	168						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCTGTTACTTCACGGAATTCT	0.388000													8	65					0	0	0.047766	0	0
TRIM10	10107	broad.mit.edu	37	6	30122175	30122175	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:30122175C>T	ENST00000449742.2	-	7	1092	c.1017G>A	c.(1015-1017)caG>caA	p.Q339Q	TRIM10_ENST00000376704.3_Silent_p.Q339Q	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	339	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						CTGGTGAGTTCTGCCATTTGT	0.567000													7	111					0	0	0.029380	0	0
SI	6476	broad.mit.edu	37	3	164766995	164766995	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:164766995G>T	ENST00000264382.3	-	15	1697	c.1635C>A	c.(1633-1635)tgC>tgA	p.C545*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	545	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.C545*(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAGCATCCATGCAAATTGTTT	0.328000										HNSCC(35;0.089)			17	24					0.000132079	0.000145336	0.049695	1	0
TENM2	57451	broad.mit.edu	37	5	167645751	167645751	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:167645751T>C	ENST00000519204.1	+	22	4610	c.4492T>C	c.(4492-4494)Tat>Cat	p.Y1498H	TENM2_ENST00000518659.1_Missense_Mutation_p.Y1619H|TENM2_ENST00000403607.2_Missense_Mutation_p.Y1443H|TENM2_ENST00000545108.1_Missense_Mutation_p.Y1618H|TENM2_ENST00000520394.1_Missense_Mutation_p.Y1380H					teneurin transmembrane protein 2																		CAATTTCACATATAGTACTGA	0.488000													20	95					0	0	0.069288	0	0
ECE2	9718	broad.mit.edu	37	3	184002808	184002808	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:184002808G>A	ENST00000402825.3	+	9	1417	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	ECE2_ENST00000357474.5_Missense_Mutation_p.E401K|ECE2_ENST00000404464.3_Missense_Mutation_p.E355K|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.E326K	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	473	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTCACCATTGGAGTTGAGTGA	0.547000											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	67					0	0	0.105934	0	0
GRM5	2915	broad.mit.edu	37	11	88330367	88330367	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:88330367C>G	ENST00000418177.2	-	6	1915	c.1548G>C	c.(1546-1548)gaG>gaC	p.E516D	GRM5_ENST00000305447.4_Missense_Mutation_p.E516D|GRM5_ENST00000455756.2_Missense_Mutation_p.E516D|GRM5_ENST00000305432.5_Missense_Mutation_p.E516D|GRM5_ENST00000393297.1_Missense_Mutation_p.E516D			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	516					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCTGGCCTTTCTCACATGGTT	0.338000													6	38					0	0	0.021553	0	0
AGO2	27161	broad.mit.edu	37	8	141549447	141549447	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:141549447C>A	ENST00000220592.5	-	16	2253	c.2141G>T	c.(2140-2142)cGg>cTg	p.R714L	AGO2_ENST00000519980.1_Missense_Mutation_p.R714L	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		GCAGAAGAGCCGGGTGTGGTG	0.592000													5	53					0.000602214	0.000650567	0.014758	1	0
YLPM1	56252	broad.mit.edu	37	14	75266344	75266344	+	Silent	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:75266344C>G	ENST00000325680.7	+	5	4468	c.4344C>G	c.(4342-4344)ctC>ctG	p.L1448L	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.L1253L	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TAATGGTTCTCAGTCAGAGGC	0.448000													16	207					0	0	0.024245	0	0
GCDH	2639	broad.mit.edu	37	19	13002761	13002761	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:13002761C>T	ENST00000222214.5	+	4	455	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	GCDH_ENST00000422947.2_Silent_p.L19L|GCDH_ENST00000457854.1_Missense_Mutation_p.R82C|GCDH_ENST00000591470.1_Missense_Mutation_p.R82C			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	82					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						ACTCATGCCTCGCATCCTGTT	0.637000													5	31					0	0	0.021553	0	0
RRP1B	23076	broad.mit.edu	37	21	45106770	45106770	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr21:45106770G>A	ENST00000340648.4	+	12	1212	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	365					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		AGCATAAGAAGAAAGGAAATA	0.428000													4	80					0	0	0.014758	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68249644	68249644	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:68249644C>A	ENST00000347230.4	-	21	4363	c.4225G>T	c.(4225-4227)Gcc>Tcc	p.A1409S	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A1409S	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1409					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ACATCTAGGGCAATGGGAGAA	0.572000													13	93					0.00244969	0.00260643	0.020292	1	0
CLCN1	1180	broad.mit.edu	37	7	143018849	143018849	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:143018849G>T	ENST00000343257.2	+	5	691	c.604G>T	c.(604-606)Gtc>Ttc	p.V202F	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	202					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TCGTGGGGTTGTCCTGAAGGA	0.522000													16	59					2.23348e-06	2.58247e-06	0.028581	1	0
ZNF184	7738	broad.mit.edu	37	6	27425159	27425159	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:27425159C>A	ENST00000211936.6	-	4	389	c.105G>T	c.(103-105)gtG>gtT	p.V35V	ZNF184_ENST00000377419.1_Silent_p.V35V	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GGGTAAAGTCCACTATCACAT	0.418000													31	132					2.85442e-18	3.77528e-18	0.045705	1	0
ZNF606	80095	broad.mit.edu	37	19	58499575	58499575	+	Splice_Site	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:58499575C>A	ENST00000341164.4	-	6	1020	c.400_splice	c.e6+1	p.E134_splice	ZNF606_ENST00000536132.1_Splice_Site_p.E44_splice	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CTGCCCTCACCTGGACAAGTG	0.527000													13	54					3.45872e-05	3.85459e-05	0.028581	1	0
MMP16	4325	broad.mit.edu	37	8	89180027	89180027	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:89180027C>A	ENST00000286614.6	-	4	861	c.580G>T	c.(580-582)Ggg>Tgg	p.G194W	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	194					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GAGCTGTCCCCATGGAAACCA	0.443000													10	58					1.58986e-06	1.84839e-06	0.069234	1	0
LEKR1	389170	broad.mit.edu	37	3	156710979	156710979	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:156710979G>A	ENST00000470811.1	+	10	1445	c.110G>A	c.(109-111)aGa>aAa	p.R37K	LEKR1_ENST00000356539.4_Missense_Mutation_p.R341K			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	50										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATAAAGAGAAGAATTAACCTT	0.343000													11	174					0	0	0.080935	0	0
OR6F1	343169	broad.mit.edu	37	1	247875814	247875814	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:247875814G>T	ENST00000302084.2	-	1	291	c.244C>A	c.(244-246)Ctg>Atg	p.L82M	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGGATGGCCAGTGCTTTGGGC	0.483000													46	100					5.2432e-18	6.92234e-18	0.048971	1	0
APOB	338	broad.mit.edu	37	2	21225455	21225455	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:21225455G>A	ENST00000233242.1	-	29	12966	c.12839C>T	c.(12838-12840)gCc>gTc	p.A4280V		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4280					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TACCTCTTGGGCTTCTTTTGA	0.358000													9	92					0	0	0.047766	0	0
CDKAL1	54901	broad.mit.edu	37	6	20781382	20781382	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:20781382C>T	ENST00000274695.4	+	8	691	c.524C>T	c.(523-525)tCt>tTt	p.S175F	RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000378624.4_Missense_Mutation_p.S105F|CDKAL1_ENST00000378610.1_Missense_Mutation_p.S175F	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	175					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GAAGGTCACTCTGTGAGACTG	0.393000													9	94					0	0	0.069234	0	0
OBSCN	84033	broad.mit.edu	37	1	228550383	228550383	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:228550383C>T	ENST00000570156.2	+	91	21713	c.21639C>T	c.(21637-21639)ccC>ccT	p.P7213P	OBSCN_ENST00000366707.4_Silent_p.P3890P|OBSCN_ENST00000422127.1_Silent_p.P6256P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6256					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCCTGGCCCCTGCCCCAGGG	0.687000													2	1					0	0	0.004672	0	0
NLRP3	114548	broad.mit.edu	37	1	247587214	247587214	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:247587214C>T	ENST00000366497.2	+	4	1249	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	NLRP3_ENST00000348069.2_Missense_Mutation_p.R157C|NLRP3_ENST00000336119.3_Missense_Mutation_p.R157C|NLRP3_ENST00000391828.3_Missense_Mutation_p.R157C|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.R157C|NLRP3_ENST00000366496.2_Missense_Mutation_p.R157C	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	157					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.R157C(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGGAATGCCCGTCTGGGTGA	0.517000													11	38					0	0	0.105934	0	0
IFNAR2	3455	broad.mit.edu	37	21	34632984	34632984	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr21:34632984G>T	ENST00000404220.3	+	8	1121	c.792G>T	c.(790-792)ctG>ctT	p.L264L	IFNAR2_ENST00000342136.4_Silent_p.L264L|IFNAR2_ENST00000382241.3_Silent_p.L264L|IFNAR2_ENST00000382264.3_Silent_p.L264L|IFNAR2_ENST00000342101.3_Intron|IFNAR2_ENST00000413881.1_Intron|AP000295.9_ENST00000433395.2_Intron			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	264					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TAGTGACACTGAAATGGATTG	0.313000													7	54					8.12818e-05	8.95068e-05	0.029380	1	0
ITSN1	6453	broad.mit.edu	37	21	35147373	35147373	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr21:35147373G>A	ENST00000381318.3	+	14	1845	c.1557G>A	c.(1555-1557)ttG>ttA	p.L519L	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Silent_p.L519L|ITSN1_ENST00000399326.3_Silent_p.L519L|ITSN1_ENST00000437442.2_Silent_p.L519L|ITSN1_ENST00000381285.4_Silent_p.L519L|ITSN1_ENST00000381291.4_Silent_p.L519L|ITSN1_ENST00000379960.5_Silent_p.L519L|ITSN1_ENST00000399349.1_Silent_p.L519L|ITSN1_ENST00000399353.1_Silent_p.L482L|ITSN1_ENST00000399367.3_Silent_p.L519L|ITSN1_ENST00000399338.4_Silent_p.L519L|ITSN1_ENST00000399352.1_Silent_p.L519L	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	519	KLERQ.				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 vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTAGAGAGTTGAGAATTGCCG	0.363000													8	79					0	0	0.058154	0	0
HSPA8	3312	broad.mit.edu	37	11	122931384	122931384	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:122931384C>T	ENST00000534624.1	-	3	604	c.328G>A	c.(328-330)Gag>Aag	p.E110K	HSPA8_ENST00000227378.3_Missense_Mutation_p.E110K|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000532636.1_Missense_Mutation_p.E110K|HSPA8_ENST00000453788.2_Missense_Mutation_p.E110K|HSPA8_ENST00000526110.1_Missense_Mutation_p.E110K	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	110					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTTTTGGTCTCTCCCTTGTAT	0.453000													6	47					0	0	0.021553	0	0
PTPRD	5789	broad.mit.edu	37	9	8507340	8507340	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:8507340G>C	ENST00000381196.4	-	19	2181	c.1638C>G	c.(1636-1638)aaC>aaG	p.N546K	PTPRD_ENST00000540109.1_Missense_Mutation_p.N546K|PTPRD_ENST00000537002.1_Missense_Mutation_p.N543K|PTPRD_ENST00000486161.1_Missense_Mutation_p.N546K|PTPRD_ENST00000356435.5_Missense_Mutation_p.N546K|PTPRD_ENST00000360074.4_Missense_Mutation_p.N533K|PTPRD_ENST00000355233.5_Missense_Mutation_p.N546K|PTPRD_ENST00000397611.3_Missense_Mutation_p.N543K|PTPRD_ENST00000397617.3_Missense_Mutation_p.N536K|PTPRD_ENST00000358503.5_Missense_Mutation_p.N533K|PTPRD_ENST00000397606.3_Missense_Mutation_p.N536K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	546	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCAGTTCATAGTTGGCAATGG	0.433000										TSP Lung(15;0.13)			49	59					0	0	0.048971	0	0
PTPRD	5789	broad.mit.edu	37	9	8484287	8484287	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:8484287G>A	ENST00000381196.4	-	27	3788	c.3245C>T	c.(3244-3246)tCa>tTa	p.S1082L	PTPRD_ENST00000540109.1_Missense_Mutation_p.S1082L|PTPRD_ENST00000537002.1_Missense_Mutation_p.S668L|PTPRD_ENST00000486161.1_Missense_Mutation_p.S671L|PTPRD_ENST00000356435.5_Missense_Mutation_p.S1082L|PTPRD_ENST00000360074.4_Missense_Mutation_p.S1069L|PTPRD_ENST00000355233.5_Missense_Mutation_p.S671L|PTPRD_ENST00000397611.3_Missense_Mutation_p.S668L|PTPRD_ENST00000397617.3_Missense_Mutation_p.S661L|PTPRD_ENST00000358503.5_Missense_Mutation_p.S1060L|PTPRD_ENST00000397606.3_Missense_Mutation_p.S661L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1082	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CAGCACAAATGAATATGATTT	0.453000										TSP Lung(15;0.13)			5	28					0	0	0.014758	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90499921	90499921	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:90499921C>A	ENST00000325643.5	+	4	585	c.519C>A	c.(517-519)gcC>gcA	p.A173A		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CTGCTAAGGCCCACCAGCCGC	0.652000													11	53					1.08611e-07	1.29423e-07	0.080935	1	0
ZNF337	26152	broad.mit.edu	37	20	25656823	25656823	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:25656823C>T	ENST00000376436.1	-	4	1640	c.1101G>A	c.(1099-1101)caG>caA	p.Q367Q	RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Silent_p.Q367Q|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000538750.1_Silent_p.Q335Q|RP4-694B14.5_ENST00000455791.1_RNA					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGTGTGTCCTCTGGTGTGTGA	0.507000													19	114					0	0	0.062417	0	0
LINC00969	440993	broad.mit.edu	37	3	195395402	195395402	+	RNA	SNP	C	C	A	rs149044725	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:195395402C>A	ENST00000445430.1	+	0	809																											TACGGGCGCACCTACTTGAGC	0.597000													8	37					9.16793e-09	1.11309e-08	0.033300	1	0
CGN	57530	broad.mit.edu	37	1	151499485	151499485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:151499485G>T	ENST00000271636.7	+	10	1931	c.1798G>T	c.(1798-1800)Gaa>Taa	p.E600*		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	594	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAGGAGATGGAAGAGGAGCT	0.542000													5	83					1.23904e-05	1.39028e-05	0.014758	1	0
MFF	56947	broad.mit.edu	37	2	228197153	228197153	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:228197153C>T	ENST00000353339.3	+	5	719	c.278C>T	c.(277-279)tCa>tTa	p.S93L	MFF_ENST00000349901.7_Missense_Mutation_p.S67L|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000337110.7_Missense_Mutation_p.S67L|MFF_ENST00000409616.1_Missense_Mutation_p.S67L|MFF_ENST00000392059.1_Missense_Mutation_p.S93L|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000409565.1_Missense_Mutation_p.S67L|MFF_ENST00000354503.6_Missense_Mutation_p.S67L|MFF_ENST00000304593.9_Missense_Mutation_p.S67L	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	93						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						GAAGATGTTTCATTTTCAAGA	0.373000													8	114					0	0	0.038147	0	0
C9orf43	257169	broad.mit.edu	37	9	116186457	116186457	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:116186457G>C	ENST00000288462.4	+	8	1114	c.668G>C	c.(667-669)gGt>gCt	p.G223A	C9orf43_ENST00000374165.1_Missense_Mutation_p.G223A	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	223										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						CTTTTGCCAGGTGGAAAGCAA	0.473000													7	83					0	0	0.029380	0	0
GOT1L1	137362	broad.mit.edu	37	8	37794809	37794809	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:37794809G>T	ENST00000307599.4	-	4	604	c.505C>A	c.(505-507)Ctc>Atc	p.L169I		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	169					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ACCACATTGAGGAGTATGTCG	0.522000													8	16					1.06961e-07	1.27767e-07	0.038147	1	0
VPS13D	55187	broad.mit.edu	37	1	12475197	12475197	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:12475197C>T	ENST00000358136.3	+	64	12218	c.12088C>T	c.(12088-12090)Cta>Tta	p.L4030L	VPS13D_ENST00000543766.1_Silent_p.L28L|VPS13D_ENST00000356315.4_Silent_p.L4005L|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4029					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGTGATTAATCTAGATCCATT	0.408000													38	60					0	0	0.098360	0	0
LRRN1	57633	broad.mit.edu	37	3	3887010	3887010	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:3887010G>A	ENST00000319331.3	+	2	1446	c.685G>A	c.(685-687)Gat>Aat	p.D229N	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	229						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GTATCTCACTGATATTCCTGG	0.418000													20	107					0	0	0.069288	0	0
PRDM16	63976	broad.mit.edu	37	1	3347509	3347509	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:3347509G>A	ENST00000378398.3	+	16	3440	c.3358G>A	c.(3358-3360)Gag>Aag	p.E1120K	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.E1119K|PRDM16_ENST00000441472.2_Missense_Mutation_p.E1119K|PRDM16_ENST00000378391.2_Missense_Mutation_p.E1120K|PRDM16_ENST00000270722.5_Missense_Mutation_p.E1120K|PRDM16_ENST00000514189.1_Missense_Mutation_p.E1120K|PRDM16_ENST00000511072.1_Missense_Mutation_p.E1121K			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1120	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ggacgtggaggaggaggacga	0.637000			T	EVI1	"""MDS, AML"""								3	10					0	0	0.014758	0	0
OR1S1	219959	broad.mit.edu	37	11	57982425	57982425	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:57982425C>A	ENST00000309433.6	+	1	209	c.209C>A	c.(208-210)aCc>aAc	p.T70N		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TACCTTCATACCCCCATGTAT	0.443000													53	91					6.27289e-28	8.58029e-28	0.048971	1	0
MZT2A	653784	broad.mit.edu	37	2	132241788	132241788	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:132241788C>T	ENST00000309451.6	-	3	368	c.323G>A	c.(322-324)aGa>aAa	p.R108K	MZT2A_ENST00000410036.2_5'UTR	NM_001085365.1	NP_001078834.1	Q6P582	MZT2A_HUMAN	mitotic spindle organizing protein 2A	108						centrosome|gamma-tubulin ring complex|spindle				breast(1)|lung(1)	2						GCCTTTGTCTCTCCCTAAGGA	0.587000													4	56					0	0	0.009096	0	0
RUSC1	23623	broad.mit.edu	37	1	155292331	155292331	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:155292331G>A	ENST00000368352.5	+	2	918	c.767G>A	c.(766-768)tGg>tAg	p.W256*	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Nonsense_Mutation_p.W256*	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	256						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			AACACTGGTTGGAAAAACAAC	0.393000													169	214					0	0	0.048971	0	0
PXDNL	137902	broad.mit.edu	37	8	52336205	52336205	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:52336205C>A	ENST00000356297.4	-	14	1825	c.1725G>T	c.(1723-1725)caG>caT	p.Q575H	PXDNL_ENST00000543296.1_Missense_Mutation_p.Q575H	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	575	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATATCTTCCCTGGTCAGGGA	0.468000													12	55					7.93312e-07	9.28144e-07	0.020292	1	0
LRRC75A-AS1	125144	broad.mit.edu	37	17	16342885	16342885	+	RNA	SNP	C	C	G	rs11540320		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:16342885C>G	ENST00000475953.1	+	0	370				C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA	NR_027667.1																						TAATGTCTATCTGACCGCAGT	0.458000													5	57					0	0	0.014758	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130480	52130480	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:52130480C>G	ENST00000222107.4	-	7	1442	c.1304G>C	c.(1303-1305)gGa>gCa	p.G435A	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.G435A|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.G435A|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.G435A|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.G435A			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	435					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		AGGAACCACTCCTGTCCCGAG	0.552000													13	40					0	0	0.105934	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33863496	33863496	+	Silent	SNP	A	A	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:33863496A>G	ENST00000307296.3	+	4	761	c.384A>G	c.(382-384)gcA>gcG	p.A128A	PDCD6IP_ENST00000498147.1_3'UTR|PDCD6IP_ENST00000457054.2_Silent_p.A128A			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	128	BRO1.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TCAATTGTGCAGCCTTAGCTA	0.353000													10	32					0	0	0.069234	0	0
MT-ND4	4538	broad.mit.edu	37	MT	11467	11467	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrM:11467A>G	ENST00000361381.2	+	1	708	c.708A>G	c.(706-708)ttA>ttG	p.236_236insL						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						GCAGTACTCTTAAAACTAGGC	0.463000													4	107					0	0	0.014758	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221331	56221331	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:56221331G>C	ENST00000357606.3	-	3	1401	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C	DNAJC14_ENST00000317287.5_Missense_Mutation_p.S371C|DNAJC14_ENST00000317269.3_Missense_Mutation_p.S371C			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	371					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CAAGGCTGGAGAATCCAGCCA	0.557000													5	87					0	0	0.038147	0	0
MYO1H	283446	broad.mit.edu	37	12	109847873	109847873	+	Splice_Site	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:109847873G>T	ENST00000310903.5	+	12	1387	c.1281_splice	c.e12+1	p.E427_splice	MYO1H_ENST00000431443.2_Splice_Site_p.E437_splice			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AAGGCATAGAGGTAAACATTT	0.299000													3	14					0.00909568	0.00950678	0.009096	1	0
ATP8B1	5205	broad.mit.edu	37	18	55338753	55338753	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr18:55338753C>A	ENST00000536015.1	-	17	1998	c.1879G>T	c.(1879-1881)Gaa>Taa	p.E627*	ATP8B1_ENST00000283684.4_Nonsense_Mutation_p.E627*|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	627					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TGTAACCGTTCATAAATAACA	0.368000													8	15					1.76689e-08	2.13819e-08	0.058154	1	0
PXDNL	137902	broad.mit.edu	37	8	52320978	52320978	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:52320978G>T	ENST00000356297.4	-	17	3306	c.3206C>A	c.(3205-3207)gCc>gAc	p.A1069D	PXDNL_ENST00000543296.1_Missense_Mutation_p.A1069D	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1069					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACCTAAGGTGGCATTCAGTCG	0.463000													9	23					1.76689e-08	2.13819e-08	0.058154	1	0
ARHGEF7	8874	broad.mit.edu	37	13	111896544	111896544	+	Splice_Site	SNP	A	A	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:111896544A>C	ENST00000375741.2	+	9	1167		c.e9-1		ARHGEF7_ENST00000478679.1_Splice_Site|ARHGEF7_ENST00000375723.1_Splice_Site|ARHGEF7_ENST00000317133.5_Splice_Site|ARHGEF7_ENST00000426073.2_Splice_Site|ARHGEF7_ENST00000375736.4_Splice_Site|ARHGEF7_ENST00000375737.5_Splice_Site|ARHGEF7_ENST00000370623.3_Splice_Site|ARHGEF7_ENST00000483189.1_Splice_Site|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375739.2_Splice_Site|ARHGEF7_ENST00000218789.5_Splice_Site	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7						apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCTTGGCTCTAGGTTAAGTTC	0.318000													3	28					0	0	0.004672	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255386	15255386	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:15255386C>T	ENST00000378116.4	-	8	2207	c.2201G>A	c.(2200-2202)gGa>gAa	p.G734E		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	734						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						ATCATTACTTCCGTTCCTTCC	0.532000													5	83					0	0	0.014758	0	0
NXPH2	11249	broad.mit.edu	37	2	139428518	139428518	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:139428518C>T	ENST00000272641.3	-	2	875	c.769G>A	c.(769-771)Gag>Aag	p.E257K		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	257	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		TATGGGGTCTCACTATGGTAA	0.413000													14	102					0	0	0.043863	0	0
SCAF11	9169	broad.mit.edu	37	12	46320470	46320470	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:46320470A>G	ENST00000465950.1	-	1	3278	c.2069T>C	c.(2068-2070)cTa>cCa	p.L690P	SCAF11_ENST00000419565.2_Missense_Mutation_p.L1005P|SCAF11_ENST00000369367.3_Missense_Mutation_p.L1005P|SCAF11_ENST00000549162.1_Missense_Mutation_p.L813P			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1005					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ATCAGCATCTAGATGGATGTC	0.373000													77	135					0	0	0.048971	0	0
COX6B2	125965	broad.mit.edu	37	19	55865833	55865833	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:55865833G>A	ENST00000593184.1	-	2	136	c.57C>T	c.(55-57)ttC>ttT	p.F19F	COX6B2_ENST00000326529.4_Silent_p.F19F|COX6B2_ENST00000588572.1_Silent_p.F19F|COX6B2_ENST00000590900.1_Silent_p.F19F|CTD-2105E13.6_ENST00000591954.3_3'UTR			Q6YFQ2	CX6B2_HUMAN	cytochrome c oxidase subunit VIb polypeptide 2 (testis)	19						mitochondrial crista|mitochondrial intermembrane space	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|lung(2)|pancreas(1)	5	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		AGCGCGGGTCGAAGGGCGGCG	0.622000													5	178					0	0	0.014758	0	0
DNMBP	23268	broad.mit.edu	37	10	101715478	101715478	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:101715478C>G	ENST00000342239.3	-	4	1844	c.1753G>C	c.(1753-1755)Gag>Cag	p.E585Q	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.E585Q			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	585					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATATCCTTCTCAGAGTTAAAG	0.517000													6	76					0	0	0.029380	0	0
CLYBL	171425	broad.mit.edu	37	13	100543592	100543592	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:100543592G>T	ENST00000376355.3	+	7	877	c.846G>T	c.(844-846)ggG>ggT	p.G282G	CLYBL_ENST00000376354.1_Silent_p.G282G|CLYBL_ENST00000339105.4_Silent_p.G316G|CLYBL_ENST00000376360.1_Silent_p.G316G	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	316					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTTCCAAGGGAGTATGATCG	0.433000													18	35					5.03518e-11	6.32604e-11	0.043863	1	0
FKBP9L	360132	broad.mit.edu	37	7	55750495	55750495	+	RNA	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:55750495C>A	ENST00000455909.1	-	0	722					NR_027340.1|NR_027342.1				FK506 binding protein 9-like											endometrium(1)|kidney(1)|lung(3)	5						CAGATGCCACCTGGGCGTGAA	0.527000													13	7					1.52009e-12	1.94446e-12	0.024245	1	0
ZNF852	285346	broad.mit.edu	37	3	44540961	44540961	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:44540961C>T	ENST00000436261.1	-	4	1468	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E				B6EU87	B6EU87_HUMAN	zinc finger protein 852	436					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						CATAGGGTTTCTCACCAGTGT	0.388000													8	64					0	0	0.038147	0	0
SP7	121340	broad.mit.edu	37	12	53722618	53722618	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:53722618G>T	ENST00000536324.2	-	3	891	c.608C>A	c.(607-609)gCt>gAt	p.A203D	SP7_ENST00000303846.3_Missense_Mutation_p.A203D|SP7_ENST00000537210.2_Missense_Mutation_p.A185D	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						ATTAAGGGGAGCAAAGTCAGA	0.612000													9	36					4.68919e-08	5.62855e-08	0.069234	1	0
RAD51AP1	10635	broad.mit.edu	37	12	4655488	4655488	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:4655488G>A	ENST00000228843.9	+	5	324	c.274G>A	c.(274-276)Gac>Aac	p.D92N	RAD51AP1_ENST00000543041.1_Intron|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.D75N|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.D92N|RAD51AP1_ENST00000544927.1_Missense_Mutation_p.D75N	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	92					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			GGCTTTAGATGACAAGCTCTA	0.343000													4	106					0	0	0.009096	0	0
LSS	4047	broad.mit.edu	37	21	47647500	47647500	+	Silent	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr21:47647500C>G	ENST00000397728.3	-	3	363	c.285G>C	c.(283-285)acG>acC	p.T95T	LSS_ENST00000356396.4_Silent_p.T95T|LSS_ENST00000457828.2_Silent_p.T15T|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000522411.1_Silent_p.T95T	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	95					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CATAATCACCCGTCCAGTGCC	0.582000													5	15					0	0	0.021553	0	0
PCDH15	65217	broad.mit.edu	37	10	55782917	55782917	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:55782917T>C	ENST00000373965.2	-	20	2676	c.2282A>G	c.(2281-2283)tAc>tGc	p.Y761C	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.Y754C|PCDH15_ENST00000373955.1_Missense_Mutation_p.Y754C|PCDH15_ENST00000395433.1_Missense_Mutation_p.Y732C|PCDH15_ENST00000395430.1_Missense_Mutation_p.Y754C|PCDH15_ENST00000414778.1_Missense_Mutation_p.Y759C|PCDH15_ENST00000395445.1_Missense_Mutation_p.Y761C|PCDH15_ENST00000395438.1_Missense_Mutation_p.Y754C|PCDH15_ENST00000361849.3_Missense_Mutation_p.Y754C|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.Y683C|PCDH15_ENST00000409834.1_Missense_Mutation_p.Y365C|PCDH15_ENST00000395432.2_Missense_Mutation_p.Y717C|PCDH15_ENST00000395442.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	754	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCCAAACTGTAGTGCACTTG	0.358000										HNSCC(58;0.16)			3	65					0	0	0.021553	0	0
LVRN	206338	broad.mit.edu	37	5	115350152	115350152	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:115350152G>T	ENST00000357872.4	+	16	2502	c.2378G>T	c.(2377-2379)tGg>tTg	p.W793L	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		793					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										ACTGCGTGTTGGTTGGGCCTT	0.368000													6	66					0.0381472	0.0393435	0.038147	1	0
PHKA2	5256	broad.mit.edu	37	X	18943785	18943785	+	Splice_Site	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:18943785C>A	ENST00000379942.4	-	15	2235		c.e15+1			NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)						glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GCTCTCCTCACCTGGGGTGTA	0.413000													13	75					0.000151284	0.000166222	0.105934	1	0
CDCA5	113130	broad.mit.edu	37	11	64846930	64846930	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:64846930G>A	ENST00000275517.3	-	5	745	c.573C>T	c.(571-573)gtC>gtT	p.V191V	CDCA5_ENST00000404147.3_Silent_p.V191V	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	191					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AAACCCTGGGGACCTCGGTGA	0.602000													10	46					0	0	0.058154	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18641506	18641506	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:18641506C>G	ENST00000433979.1	+	18	2621	c.2505C>G	c.(2503-2505)atC>atG	p.I835M	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.I835M|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.I876M	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	835					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AGAAACTTATCAAAATTCTGG	0.368000													6	32					0	0	0.029380	0	0
EVPL	2125	broad.mit.edu	37	17	74005847	74005847	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:74005847C>A	ENST00000301607.3	-	22	3692	c.3439G>T	c.(3439-3441)Ggg>Tgg	p.G1147W	EVPL_ENST00000586740.1_Missense_Mutation_p.G1169W	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1147	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGAGGAGCCCTGGGTCCTGC	0.632000													9	54					1.12685e-05	1.27308e-05	0.047766	1	0
MYO3A	53904	broad.mit.edu	37	10	26443682	26443682	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:26443682C>G	ENST00000265944.5	+	25	2889	c.2723C>G	c.(2722-2724)aCt>aGt	p.T908S	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	908	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TAGGGCGACACTGGAGAAGCC	0.408000													3	26					0	0	0.004672	0	0
CROT	54677	broad.mit.edu	37	7	87021902	87021902	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:87021902G>C	ENST00000331536.3	+	15	1631	c.1446G>C	c.(1444-1446)aaG>aaC	p.K482N	CROT_ENST00000442291.1_Missense_Mutation_p.K482N|CROT_ENST00000419147.2_Missense_Mutation_p.K510N	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	482					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GGCAGCAAAAGATGTTACAAG	0.333000													3	72					0	0	0.004672	0	0
HR	55806	broad.mit.edu	37	8	21977862	21977862	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:21977862C>A	ENST00000381418.4	-	12	4249	c.2769G>T	c.(2767-2769)tgG>tgT	p.W923C	HR_ENST00000312841.8_Missense_Mutation_p.W923C	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	923							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TACGCTCAGGCCAGGAGAAGC	0.682000													3	9					0.00024832	0.000270828	0.009096	1	0
CASP14	23581	broad.mit.edu	37	19	15164405	15164405	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:15164405G>A	ENST00000427043.3	+	3	448	c.140G>A	c.(139-141)aGa>aAa	p.R47K	CASP14_ENST00000221740.1_Missense_Mutation_p.R47K	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	47					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	p.R47I(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CGGCAGCTGAGATTCGAAAGC	0.542000													47	274					0	0	0.048971	0	0
ATXN2L	11273	broad.mit.edu	37	16	28845423	28845423	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:28845423G>C	ENST00000336783.4	+	16	2230	c.2063G>C	c.(2062-2064)cGg>cCg	p.R688P	ATXN2L_ENST00000382686.4_Missense_Mutation_p.R688P|ATXN2L_ENST00000395547.2_Missense_Mutation_p.R688P|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000340394.8_Missense_Mutation_p.R688P|ATXN2L_ENST00000325215.6_Missense_Mutation_p.R688P|ATXN2L_ENST00000564304.1_Missense_Mutation_p.R694P|ATXN2L_ENST00000570200.1_Missense_Mutation_p.R688P	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	688						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCGGGGCCCCGGACTCATTCA	0.522000													20	99					0	0	0.062417	0	0
DPEP3	64180	broad.mit.edu	37	16	68009885	68009885	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:68009885G>T	ENST00000268793.4	-	10	1698	c.1325C>A	c.(1324-1326)gCg>gAg	p.A442E		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	417					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GGGGCTCTGCGCCCTGCTCTC	0.602000													4	27					0.014758	0.0153276	0.014758	1	0
NFKB2	4791	broad.mit.edu	37	10	104157429	104157429	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:104157429C>T	ENST00000369966.3	+	8	898	c.648C>T	c.(646-648)ccC>ccT	p.P216P	NFKB2_ENST00000428099.1_Silent_p.P216P|NFKB2_ENST00000189444.6_Silent_p.P216P	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	216	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		TCTCCCAGCCCATCCATGACA	0.582000			T	IGH@	B-NHL								6	78					0	0	0.105934	0	0
COL12A1	1303	broad.mit.edu	37	6	75860867	75860867	+	Silent	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:75860867G>C	ENST00000322507.8	-	21	4446	c.4137C>G	c.(4135-4137)gtC>gtG	p.V1379V	COL12A1_ENST00000416123.2_Silent_p.V1379V|COL12A1_ENST00000345356.6_Silent_p.V215V|COL12A1_ENST00000483888.2_Silent_p.V1379V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1379					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTGGACCTTTGACACTGTTAC	0.438000													5	69					0	0	0.014758	0	0
MEGF10	84466	broad.mit.edu	37	5	126783303	126783303	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:126783303C>G	ENST00000274473.6	+	22	3050	c.2783C>G	c.(2782-2784)cCc>cGc	p.P928R	MEGF10_ENST00000503335.2_Missense_Mutation_p.P928R|MEGF10_ENST00000510828.1_3'UTR	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	928					cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TTCACCAATCCCAGTTACCAC	0.507000													36	55					0	0	0.048971	0	0
ZNF17	7565	broad.mit.edu	37	19	57931936	57931936	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:57931936A>C	ENST00000307658.7	+	4	1345	c.1082A>C	c.(1081-1083)tAt>tCt	p.Y361S	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Missense_Mutation_p.Y359S			P17021	ZNF17_HUMAN	zinc finger protein 17	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGGCCTTTTTATTGCTGTGAA	0.408000													9	141					0	0	0.093190	0	0
ZNF160	90338	broad.mit.edu	37	19	53571403	53571403	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:53571403C>A	ENST00000601421.1	-	3	3152	c.2276G>T	c.(2275-2277)gGc>gTc	p.G759V	ZNF160_ENST00000429604.1_Missense_Mutation_p.G795V|ZNF160_ENST00000599056.1_Missense_Mutation_p.G795V|ZNF160_ENST00000418871.1_Missense_Mutation_p.G795V			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	795					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		GAAGACCTTGCCACACTCATT	0.433000													28	55					6.38683e-12	8.11374e-12	0.037714	1	0
DGKH	160851	broad.mit.edu	37	13	42784760	42784760	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:42784760C>A	ENST00000379274.2	+	24	2894	c.2465C>A	c.(2464-2466)tCt>tAt	p.S822Y	DGKH_ENST00000536612.1_Missense_Mutation_p.S822Y|DGKH_ENST00000337343.4_Missense_Mutation_p.S958Y|DGKH_ENST00000540693.1_Missense_Mutation_p.S958Y|DGKH_ENST00000261491.4_Missense_Mutation_p.S958Y|DGKH_ENST00000538674.1_Missense_Mutation_p.S713Y|DGKH_ENST00000498255.2_3'UTR			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	958					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		ACTCTGAAATCTTGGGAAGAT	0.398000													8	62					0.000274275	0.000298257	0.047766	1	0
DMD	1756	broad.mit.edu	37	X	32715994	32715994	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:32715994G>C	ENST00000357033.4	-	9	1159	c.953C>G	c.(952-954)cCt>cGt	p.P318R	DMD_ENST00000288447.4_Missense_Mutation_p.P310R|DMD_ENST00000378677.2_Missense_Mutation_p.P314R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	318					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GACCTGTGAAGGAAATGGGCT	0.448000													9	8					0	0	0.069234	0	0
HRNR	388697	broad.mit.edu	37	1	152193383	152193383	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:152193383G>T	ENST00000368801.2	-	3	797	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	241					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTAACCAGAGGACTGCCCTGA	0.557000													51	89					1.83081e-24	2.48131e-24	0.048971	1	0
CTNNA2	1496	broad.mit.edu	37	2	80085181	80085181	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:80085181C>A	ENST00000466387.1	+	8	1065	c.341C>A	c.(340-342)cCt>cAt	p.P114H	CTNNA2_ENST00000496558.1_Missense_Mutation_p.P114H|CTNNA2_ENST00000402739.4_Missense_Mutation_p.P114H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.P114H|CTNNA2_ENST00000361291.4_Missense_Mutation_p.P148H|CTNNA2_ENST00000540488.1_Missense_Mutation_p.P114H			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	114					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCAGATGACCCTTGCTCGTCG	0.597000													20	58					4.26978e-12	5.42893e-12	0.083992	1	0
TUBB2A	7280	broad.mit.edu	37	6	3155153	3155153	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:3155153C>G	ENST00000333628.3	-	4	344	c.282G>C	c.(280-282)caG>caC	p.Q94H	TUBB2A_ENST00000489942.1_5'UTR	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	94					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CGGCTCCACTCTGGCCTGCCA	0.512000													4	16					0	0	0.009096	0	0
BRPF1	7862	broad.mit.edu	37	3	9785913	9785913	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:9785913G>T	ENST00000383829.2	+	9	3045	c.2641G>T	c.(2641-2643)Ggt>Tgt	p.G881C	BRPF1_ENST00000424362.1_Missense_Mutation_p.G874C|BRPF1_ENST00000457855.1_Missense_Mutation_p.G875C|BRPF1_ENST00000302054.3_Missense_Mutation_p.G875C|BRPF1_ENST00000433861.2_Intron	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	875	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TCCAGGCCTGGGTCCCAACAT	0.552000													11	201					3.07112e-06	3.53167e-06	0.080935	1	0
DGKA	1606	broad.mit.edu	37	12	56345838	56345838	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:56345838G>A	ENST00000331886.5	+	19	2061	c.1607G>A	c.(1606-1608)cGa>cAa	p.R536Q	DGKA_ENST00000551156.1_Missense_Mutation_p.R536Q|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.R536Q	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	536					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	ATTGCTCATCGATTCCACATC	0.532000													43	323					0	0	0.048971	0	0
HNRNPH1	3187	broad.mit.edu	37	5	179048375	179048375	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:179048375G>C	ENST00000356731.5	-	2	1656	c.121C>G	c.(121-123)Caa>Gaa	p.Q41E	HNRNPH1_ENST00000329433.6_Missense_Mutation_p.Q41E|HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.Q41E|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.Q41E|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.Q41E			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	41	RRM 1.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CGAATACCTTGAGCCCCATTT	0.398000													4	26					0	0	0.009096	0	0
IL4I1	259307	broad.mit.edu	37	19	50399290	50399290	+	Missense_Mutation	SNP	C	C	T	rs138247129		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:50399290C>T	ENST00000595948.1	-	5	720	c.100G>A	c.(100-102)Gtc>Atc	p.V34I	IL4I1_ENST00000391826.2_Missense_Mutation_p.V12I|IL4I1_ENST00000341114.3_Missense_Mutation_p.V34I	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	12						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		aggatggggacgaggacgagg	0.622000													20	39					0	0	0.055883	0	0
TTC21B	79809	broad.mit.edu	37	2	166781139	166781139	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:166781139G>C	ENST00000243344.7	-	12	1573	c.1436C>G	c.(1435-1437)tCa>tGa	p.S479*		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	479						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CTCCAGGACTGAGATGCAACG	0.378000													4	70					0	0	0.021553	0	0
POFUT1	23509	broad.mit.edu	37	20	30816238	30816238	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:30816238C>G	ENST00000375749.3	+	5	777	c.715C>G	c.(715-717)Ctg>Gtg	p.L239V	POFUT1_ENST00000539210.1_Missense_Mutation_p.L28V|POFUT1_ENST00000486717.1_3'UTR	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	239					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGCATTCATCTGCGCATTGG	0.577000													4	34					0	0	0.014758	0	0
CACNA1B	774	broad.mit.edu	37	9	140773555	140773555	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:140773555C>A	ENST00000371372.1	+	2	479	c.334C>A	c.(334-336)Ctg>Atg	p.L112M	CACNA1B_ENST00000277551.2_Missense_Mutation_p.L112M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.L112M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.L112M|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.L112M|RP11-188C12.3_ENST00000371390.1_RNA	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	112					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTGCATCGTGCTGGCCCTGGA	0.647000													10	15					0.000673444	0.000726456	0.069234	1	0
POTEE	445582	broad.mit.edu	37	2	132021733	132021733	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:132021733C>A	ENST00000356920.5	+	15	2799	c.2705C>A	c.(2704-2706)aCc>aAc	p.T902N	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	902	Actin-like.						ATP binding										AGGTTCACCACCATGGCCGAG	0.612000													21	113					3.01185e-09	3.69613e-09	0.091800	1	0
DST	667	broad.mit.edu	37	6	56473023	56473023	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:56473023C>A	ENST00000370754.5	-	39	6303	c.6304G>T	c.(6304-6306)Gca>Tca	p.A2102S	DST_ENST00000370769.4_Missense_Mutation_p.A1924S|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.A1598S|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.A1924S|DST_ENST00000361203.3_Missense_Mutation_p.A1924S			Q03001	DYST_HUMAN	dystonin	1924					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			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)			AAAATTGATGCTGTGTTGTTG	0.338000													5	56					1.23904e-05	1.39028e-05	0.014758	1	0
RIPK2	8767	broad.mit.edu	37	8	90775204	90775204	+	Silent	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:90775204A>T	ENST00000220751.4	+	2	635	c.321A>T	c.(319-321)ctA>ctT	p.L107L	RIPK2_ENST00000540020.1_Intron	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	107	Protein kinase.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			ATGAACTCCTACATAGGGTAA	0.303000													5	50					0	0	0.021553	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74625594	74625594	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:74625594C>T	ENST00000156626.7	-	2	530	c.331G>A	c.(331-333)Gag>Aag	p.E111K	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	111					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TTGTCCTGCTCCTCCGGCGGT	0.587000													10	139					0	0	0.069234	0	0
FLT4	2324	broad.mit.edu	37	5	180038434	180038434	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:180038434C>T	ENST00000261937.6	-	27	3661	c.3583G>A	c.(3583-3585)Gaa>Aaa	p.E1195K	FLT4_ENST00000393347.3_Missense_Mutation_p.E1195K|FLT4_ENST00000502649.1_Missense_Mutation_p.E1195K	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1195					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTGCCCTCTTCTGAGCTCTGA	0.672000													7	63					0	0	0.058154	0	0
CRYGD	1421	broad.mit.edu	37	2	208986484	208986484	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:208986484C>A	ENST00000264376.4	-	3	465	c.438G>T	c.(436-438)ctG>ctT	p.L146L		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	146	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CCCCTGGCATCAGCAGGTACT	0.567000													4	30					0.00909568	0.00950678	0.009096	1	0
DGAT1	8694	broad.mit.edu	37	8	145541079	145541079	+	Silent	SNP	G	G	A	rs149384210		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:145541079G>A	ENST00000332324.4	-	13	1284	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F		NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	337					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCCAGTAGAAGAAGATGAGCC	0.597000													3	24					0	0	0.014758	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724883	140724883	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:140724883G>T	ENST00000253812.6	+	1	1283	c.1283G>T	c.(1282-1284)gGa>gTa	p.G428V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGATGGGGGAAGCCCGCCA	0.468000													6	91					3.59834e-05	3.99515e-05	0.021553	1	0
LPA	4018	broad.mit.edu	37	6	161011992	161011992	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:161011992C>A	ENST00000447678.1	-	24	3891	c.3771G>T	c.(3769-3771)acG>acT	p.T1257T	LPA_ENST00000316300.5_Silent_p.T1257T	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3765	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAGAAACAGCCGTGGACGTCG	0.468000													20	53					1.01871e-10	1.27555e-10	0.049695	1	0
ATR	545	broad.mit.edu	37	3	142279118	142279118	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:142279118G>C	ENST00000350721.4	-	6	1649	c.1528C>G	c.(1528-1530)Caa>Gaa	p.Q510E	ATR_ENST00000383101.3_Intron	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	510					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTCATGTTTTGATGAGAACAA	0.368000								Other conserved DNA damage response genes					4	82					0	0	0.009096	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239824	5239824	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:5239824G>C	ENST00000274181.7	+	16	2447	c.2309G>C	c.(2308-2310)gGa>gCa	p.G770A		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	770	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G770V(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATTCCTTCTGGAGCCCGGAGT	0.473000													19	141					0	0	0.076483	0	0
FMNL2	114793	broad.mit.edu	37	2	153471417	153471417	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:153471417T>A	ENST00000288670.9	+	12	1482	c.1115T>A	c.(1114-1116)cTg>cAg	p.L372Q		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	372	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CAGGCTTACCTGGACAATGTT	0.428000													7	167					0	0	0.029380	0	0
TSC2	7249	broad.mit.edu	37	16	2105464	2105464	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:2105464G>T	ENST00000219476.3	+	6	1173	c.543G>T	c.(541-543)gtG>gtT	p.V181V	TSC2_ENST00000382538.6_Silent_p.V132V|TSC2_ENST00000401874.2_Silent_p.V181V|TSC2_ENST00000439673.2_Silent_p.V144V|TSC2_ENST00000568454.1_Silent_p.V192V|TSC2_ENST00000353929.4_Silent_p.V181V|TSC2_ENST00000350773.4_Silent_p.V181V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	181	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGGTGCTGGTGAACTTGGTCA	0.488000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				11	73					7.93312e-07	9.28144e-07	0.020292	1	0
SDHB	6390	broad.mit.edu	37	1	17354337	17354337	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:17354337C>T	ENST00000375499.3	-	5	597	c.447G>A	c.(445-447)caG>caA	p.Q149Q		NM_003000.2	NP_002991.2	P21912	DHSB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	149					respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	TGGATTTGTACTGTGCATAGA	0.413000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				6	30					0	0	0.021553	0	0
ADCY2	108	broad.mit.edu	37	5	7724674	7724674	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:7724674G>A	ENST00000338316.4	+	13	1809	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K	ADCY2_ENST00000537121.1_Missense_Mutation_p.E394K|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	574					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCTCAAGTCTGAAGACATTCA	0.333000													5	63					0	0	0.021553	0	0
SMG1	23049	broad.mit.edu	37	16	18878006	18878006	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:18878006G>A	ENST00000446231.2	-	23	3699	c.3287C>T	c.(3286-3288)tCa>tTa	p.S1096L	SMG1_ENST00000389467.3_Missense_Mutation_p.S1096L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1096	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AATAGATGATGACCAGACAGC	0.418000													7	93					0	0	0.047766	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36272067	36272067	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:36272067G>C	ENST00000007510.4	+	12	1142	c.998G>C	c.(997-999)cGc>cCc	p.R333P	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R197P|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R333P			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	333	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	p.R333fs*112(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CAGGTGCTGCGCTGCTGCTCC	0.667000													8	56					0	0	0.058154	0	0
PDCD11	22984	broad.mit.edu	37	10	105193765	105193765	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:105193765C>T	ENST00000369797.3	+	23	3629	c.3535C>T	c.(3535-3537)Ccc>Tcc	p.P1179S		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1179	S1 motif 10.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGGGAGAATTCCCTTATTGCT	0.512000													12	63					0	0	0.093190	0	0
PCDH1	5097	broad.mit.edu	37	5	141236898	141236898	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:141236898C>A	ENST00000287008.3	-	4	3385	c.3238G>T	c.(3238-3240)Ggt>Tgt	p.G1080C	PCDH1_ENST00000503492.1_Missense_Mutation_p.G348C	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GCCAGGGGACCGAGTCGAGGC	0.627000													3	16					1.23904e-05	1.39028e-05	0.014758	1	0
NUF2	83540	broad.mit.edu	37	1	163325229	163325229	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:163325229G>A	ENST00000271452.3	+	14	1644	c.1365G>A	c.(1363-1365)ctG>ctA	p.L455L	NUF2_ENST00000524800.1_Silent_p.L408L|NUF2_ENST00000367900.3_Silent_p.L455L	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	455	Interaction with the C-terminus of NDC80 and the SPBC24-SPBC25 subcomplex.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CAGCTGAACTGAAGAGGAAGA	0.343000													13	117					0	0	0.105934	0	0
LASP1	3927	broad.mit.edu	37	17	37074947	37074947	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:37074947G>A	ENST00000318008.6	+	7	1033	c.702G>A	c.(700-702)caG>caA	p.Q234Q	LASP1_ENST00000435347.3_Silent_p.Q234Q|LASP1_ENST00000433206.2_Silent_p.Q178Q	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	234	SH3.					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						ACGTGCAGCAGATCGACGACG	0.667000			T	MLL	AML								8	101					0	0	0.069234	0	0
OR51E1	143503	broad.mit.edu	37	11	4673879	4673879	+	Silent	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:4673879T>A	ENST00000396952.5	+	2	773	c.123T>A	c.(121-123)gcT>gcA	p.A41A	OR51E1_ENST00000530215.1_Silent_p.A41A	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCTTATTGCTGTGCTAGGTA	0.463000													57	220					0	0	0.048971	0	0
HKDC1	80201	broad.mit.edu	37	10	71010295	71010295	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:71010295G>C	ENST00000354624.5	+	12	1856	c.1723G>C	c.(1723-1725)Gat>Cat	p.D575H	HKDC1_ENST00000395086.2_Missense_Mutation_p.D575H	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	575					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCAGCTCTTTGATCACATTGT	0.582000													12	88					0	0	0.093190	0	0
SLC14A2	8170	broad.mit.edu	37	18	43247877	43247877	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr18:43247877C>G	ENST00000255226.6	+	14	2613	c.1797C>G	c.(1795-1797)agC>agG	p.S599R	SLC14A2_ENST00000589658.1_Missense_Mutation_p.S76R|SLC14A2_ENST00000586448.1_Missense_Mutation_p.S599R	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	599						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.S599S(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCCCCTCAGCGGCATCCTCA	0.567000													9	129					0	0	0.058154	0	0
FAM83F	113828	broad.mit.edu	37	22	40415202	40415202	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:40415202G>A	ENST00000333407.5	+	2	614	c.520G>A	c.(520-522)Gat>Aat	p.D174N	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	174										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CCTCTTCACTGATGGTGATAT	0.547000													8	52					0	0	0.093190	0	0
CACNB1	782	broad.mit.edu	37	17	37343840	37343840	+	Silent	SNP	T	T	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:37343840T>C	ENST00000394303.3	-	4	513	c.306A>G	c.(304-306)gcA>gcG	p.A102A	CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000394310.3_Silent_p.A102A|CACNB1_ENST00000344140.5_Silent_p.A102A	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	102	SH3.				axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GCACAGCAAATGCCACTGGCT	0.532000													9	181					0	0	0.058154	0	0
CASP8	841	broad.mit.edu	37	2	202149735	202149735	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:202149735C>G	ENST00000358485.4	+	8	1372	c.1176C>G	c.(1174-1176)atC>atG	p.I392M	CASP8_ENST00000264274.9_Missense_Mutation_p.I249M|CASP8_ENST00000323492.7_Missense_Mutation_p.I318M|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.I350M|CASP8_ENST00000432109.2_Missense_Mutation_p.I333M	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	333					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			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						AGGCCCCCATCTATGAGCTGA	0.488000										HNSCC(4;0.00038)			11	117					0	0	0.069234	0	0
LYG1	129530	broad.mit.edu	37	2	99907838	99907838	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:99907838G>A	ENST00000409448.1	-	6	511	c.195C>T	c.(193-195)ctC>ctT	p.L65L	LYG1_ENST00000308528.4_Silent_p.L65L			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	65					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GATATTTCAGGAGGTATGGCA	0.473000													5	74					0	0	0.014758	0	0
TOP2B	7155	broad.mit.edu	37	3	25639969	25639969	+	Splice_Site	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:25639969C>G	ENST00000435706.2	-	36	4897		c.e36-1		TOP2B_ENST00000542520.1_Splice_Site|TOP2B_ENST00000540199.1_Splice_Site|TOP2B_ENST00000264331.4_Splice_Site			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa						DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TCTTCGGTTTCTAGATTTTTT	0.388000													3	15					0	0	0.004672	0	0
ADCY6	112	broad.mit.edu	37	12	49168255	49168255	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:49168255G>A	ENST00000307885.4	-	13	2907	c.2213C>T	c.(2212-2214)tCa>tTa	p.S738L	ADCY6_ENST00000550422.1_Missense_Mutation_p.S738L|ADCY6_ENST00000357869.3_Missense_Mutation_p.S738L|ADCY6_ENST00000552090.1_5'UTR	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	738					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						ATGTGCCCGTGAGCGGACAAT	0.537000													6	73					0	0	0.038147	0	0
DDX21	9188	broad.mit.edu	37	10	70719844	70719844	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:70719844G>A	ENST00000354185.4	+	2	468	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	124						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TTCTGAGGAAGAAATAGATGC	0.368000													6	50					0	0	0.029380	0	0
OR2C3	81472	broad.mit.edu	37	1	247695436	247695436	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:247695436G>T	ENST00000366487.3	-	2	739	c.378C>A	c.(376-378)gcC>gcA	p.A126A	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GCCTGCAGATGGCAGCGTAGC	0.572000													7	25					2.0095e-06	2.32894e-06	0.029380	1	0
BRPF1	7862	broad.mit.edu	37	3	9785987	9785987	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:9785987G>A	ENST00000383829.2	+	9	3119	c.2715G>A	c.(2713-2715)ccG>ccA	p.P905P	BRPF1_ENST00000424362.1_Silent_p.P898P|BRPF1_ENST00000457855.1_Silent_p.P899P|BRPF1_ENST00000302054.3_Silent_p.P899P|BRPF1_ENST00000433861.2_Intron	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	899	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AAAAGAACCCGAAGACAGCTG	0.632000													10	83					0	0	0.058154	0	0
ETV4	2118	broad.mit.edu	37	17	41613836	41613836	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:41613836C>T	ENST00000319349.5	-	5	512	c.214G>A	c.(214-216)Gac>Aac	p.D72N	ETV4_ENST00000538265.1_Missense_Mutation_p.D33N|ETV4_ENST00000591713.1_Missense_Mutation_p.D72N|ETV4_ENST00000545954.1_Missense_Mutation_p.D33N|ETV4_ENST00000393664.2_Missense_Mutation_p.D72N|ETV4_ENST00000545089.1_Missense_Mutation_p.D72N	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	72	Asp/Glu-rich (acidic).				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		TCATCACTGTCTGGTACCTGA	0.537000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								16	319					0	0	0.024245	0	0
HOXB3	3213	broad.mit.edu	37	17	46628303	46628303	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:46628303C>A	ENST00000470495.1	-	2	2136	c.689G>T	c.(688-690)cGg>cTg	p.R230L	HOXB3_ENST00000485909.2_Missense_Mutation_p.R98L|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.R96L|HOXB3_ENST00000311626.4_Missense_Mutation_p.R230L|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.R98L|HOXB3_ENST00000489475.1_Missense_Mutation_p.R157L|HOXB3_ENST00000498678.1_Missense_Mutation_p.R230L|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.R157L|HOXB3_ENST00000476342.1_Missense_Mutation_p.R230L			P14651	HXB3_HUMAN	homeobox B3	230					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CTTGATCTGCCGCTCGCTGAG	0.612000													30	183					1.45844e-13	1.88021e-13	0.054565	1	0
TACC2	10579	broad.mit.edu	37	10	123846369	123846369	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:123846369C>G	ENST00000369005.1	+	4	4694	c.4354C>G	c.(4354-4356)Cta>Gta	p.L1452V	TACC2_ENST00000515273.1_Missense_Mutation_p.L1452V|TACC2_ENST00000453444.2_Missense_Mutation_p.L1452V|TACC2_ENST00000515603.1_Missense_Mutation_p.L1452V|TACC2_ENST00000334433.3_Missense_Mutation_p.L1452V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1452						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGAGAAGCTTCTAGATGGGCC	0.597000													6	21					0	0	0.038147	0	0
ZBTB48	3104	broad.mit.edu	37	1	6641242	6641242	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:6641242G>A	ENST00000377674.4	+	2	731	c.573G>A	c.(571-573)ggG>ggA	p.G191G		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	191						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		CCCTCTGTGGGAAACTGAAGC	0.612000													4	18					0	0	0.014758	0	0
USP30	84749	broad.mit.edu	37	12	109494575	109494575	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:109494575G>C	ENST00000257548.5	+	2	265	c.172G>C	c.(172-174)Gaa>Caa	p.E58Q	USP30_ENST00000392784.2_Missense_Mutation_p.E27Q	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	58					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TCCCATTACAGAAAGAAAGAA	0.398000													16	79					0	0	0.028581	0	0
MCC	4163	broad.mit.edu	37	5	112437459	112437459	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:112437459C>T	ENST00000302475.4	-	6	1368	c.805G>A	c.(805-807)Gag>Aag	p.E269K	MCC_ENST00000408903.3_Missense_Mutation_p.E459K|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.E206K	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	269					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.E459*(1)|p.E269*(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CGGTCCCGCTCTTCCCGGATG	0.602000													10	147					0	0	0.069234	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530412	140530412	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:140530412G>T	ENST00000231136.1	+	1	574	c.574G>T	c.(574-576)Gag>Tag	p.E192*	PCDHB6_ENST00000543635.1_Nonsense_Mutation_p.E56*	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		192	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGTTCCCGGAGCTGGTGCT	0.617000													78	104					1.17611e-34	1.62829e-34	0.048971	1	0
UNC5B	219699	broad.mit.edu	37	10	73048713	73048713	+	Splice_Site	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:73048713A>T	ENST00000335350.6	+	8	1482		c.e8-1		UNC5B_ENST00000373192.4_Intron	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)						apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TTCCCTTGACAGATAAGAAAA	0.498000													17	30					0	0	0.049695	0	0
PRPF38A	84950	broad.mit.edu	37	1	52874343	52874343	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:52874343G>A	ENST00000257181.9	+	3	579	c.393G>A	c.(391-393)aaG>aaA	p.K131K	PRPF38A_ENST00000474048.1_Intron	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	131					mRNA processing|RNA splicing	spliceosomal complex				cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						GAAAAATCAAGAGCCAGAACC	0.418000													15	55					0	0	0.024245	0	0
ATP5S	27109	broad.mit.edu	37	14	50789464	50789464	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:50789464G>C	ENST00000426751.2	+	3	1025	c.388G>C	c.(388-390)Gaa>Caa	p.E130Q	ATP5S_ENST00000358473.1_Intron|ATP5S_ENST00000245448.6_Intron|ATP5S_ENST00000554438.1_Intron|ATP5S_ENST00000311459.7_Intron	NM_015684.3	NP_056499.2	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	0					ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		TTTGCTAATAGAAAATGCAGA	0.393000													5	25					0	0	0.029380	0	0
ECT2	1894	broad.mit.edu	37	3	172533425	172533425	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:172533425C>T	ENST00000417960.1	+	23	2813	c.2336C>T	c.(2335-2337)tCc>tTc	p.S779F	ECT2_ENST00000232458.5_Missense_Mutation_p.S780F|ECT2_ENST00000392692.3_Missense_Mutation_p.S811F|ECT2_ENST00000540509.1_Missense_Mutation_p.S811F|ECT2_ENST00000441497.2_Missense_Mutation_p.S780F|ECT2_ENST00000427830.1_Missense_Mutation_p.S780F	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	780					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			GATCCAGAATCCTTTGAAGTA	0.274000													5	45					0	0	0.038147	0	0
BCL11A	53335	broad.mit.edu	37	2	60689368	60689368	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:60689368G>C	ENST00000335712.6	-	4	906	c.679C>G	c.(679-681)Ctc>Gtc	p.L227V	BCL11A_ENST00000538214.1_Missense_Mutation_p.L193V|BCL11A_ENST00000356842.4_Missense_Mutation_p.L227V|BCL11A_ENST00000358510.4_Missense_Mutation_p.L193V|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	227					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ATCCCATGGAGAGGTGGCTGG	0.517000			T	IGH@	B-CLL								7	13					0	0	0.038147	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21471738	21471738	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:21471738G>T	ENST00000307378.6	-	4	900	c.180C>A	c.(178-180)ttC>ttA	p.F60L	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.F60L|SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.F58L|SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000473830.1_5'UTR	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	60					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTCCATTAATGAATCCAACTA	0.328000													37	41					4.11147e-13	5.28669e-13	0.064281	1	0
CCKBR	887	broad.mit.edu	37	11	6292377	6292377	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:6292377C>T	ENST00000525462.1	+	4	1158	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000532715.1_Silent_p.S232S|CCKBR_ENST00000334619.2_Silent_p.S316S			P32239	GASR_HUMAN	cholecystokinin B receptor	316					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GGCCGGGATCCGGCTCCCGGC	0.627000													4	31					0	0	0.014758	0	0
CFAP54	144535	broad.mit.edu	37	12	97147597	97147597	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:97147597G>T	ENST00000524981.3	+	23	3114	c.3114G>T	c.(3112-3114)ctG>ctT	p.L1038L				Q6ZTY8	CL063_HUMAN		1012										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CTCTTCATCTGTTTGATGTGG	0.443000													11	52					1.58986e-06	1.84839e-06	0.069234	1	0
KRTAP13-3	337960	broad.mit.edu	37	21	31798155	31798155	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr21:31798155A>T	ENST00000390690.2	-	1	131	c.76T>A	c.(76-78)Tgt>Agt	p.C26S		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	26						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						GAAGAGCCACAGGAGGAGCCT	0.567000													20	46					0	0	0.069288	0	0
AP5M1	55745	broad.mit.edu	37	14	57749651	57749651	+	Splice_Site	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:57749651G>C	ENST00000261558.3	+	5	1494		c.e5-1		AP5M1_ENST00000556723.1_Splice_Site|AP5M1_ENST00000431972.2_Splice_Site	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit						intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											TCTTTTTAAAGAGGTCCAATT	0.318000													6	55					0	0	0.021553	0	0
CMAHP	8418	broad.mit.edu	37	6	25108846	25108846	+	RNA	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:25108846C>T	ENST00000377989.4	-	0	1350																				NS(1)	1						AAGCCTGATGCTCCTCCAGCA	0.423000													7	7					0	0	0.029380	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215648	20215648	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:20215648G>T	ENST00000331723.1	+	1	62	c.62G>T	c.(61-63)tGg>tTg	p.W21L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCATCTTCTTGGGAGCTGCAG	0.368000													15	201					6.31663e-08	7.5636e-08	0.024245	1	0
ZNF606	80095	broad.mit.edu	37	19	58490390	58490390	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:58490390G>C	ENST00000341164.4	-	7	2278	c.1658C>G	c.(1657-1659)tCa>tGa	p.S553*	ZNF606_ENST00000536132.1_Nonsense_Mutation_p.S463*	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		ACTAAGGGCTGAGTAGTCCCT	0.403000													6	74					0	0	0.021553	0	0
IGKV1-12	28940	broad.mit.edu	37	2	89339971	89339971	+	RNA	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:89339971G>C	ENST00000480492.1	-	0	147																											TACAGATGCAGACACGGAAGA	0.478000													26	679					0	0	0.099896	0	0
FBN2	2201	broad.mit.edu	37	5	127609548	127609548	+	Silent	SNP	G	G	T	rs28763922	byFrequency	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:127609548G>T	ENST00000508053.1	-	67	8798	c.7824C>A	c.(7822-7824)acC>acA	p.T2608T	FBN2_ENST00000262464.4_Silent_p.T2608T			P35556	FBN2_HUMAN	fibrillin 2	2608	EGF-like 44; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.T2608T(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGTTCAGTCCGGTGGCATCAA	0.393000													12	27					2.27111e-07	2.6933e-07	0.093190	1	0
GAS7	8522	broad.mit.edu	37	17	9830037	9830037	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:9830037T>A	ENST00000396115.1	-	10	1065	c.755A>T	c.(754-756)aAg>aTg	p.K252M	GAS7_ENST00000580865.1_Missense_Mutation_p.K172M|GAS7_ENST00000437099.2_Missense_Mutation_p.K248M|GAS7_ENST00000542249.1_Missense_Mutation_p.K257M|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000585266.1_Missense_Mutation_p.K248M|GAS7_ENST00000579158.1_Missense_Mutation_p.K264M|GAS7_ENST00000432992.2_Missense_Mutation_p.K312M|GAS7_ENST00000323816.4_Missense_Mutation_p.K248M|GAS7_ENST00000540214.1_Intron	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	312	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CATGTCTTTCTTGAAGTTCTC	0.577000			T	MLL	AML*								19	28					0	0	0.055883	0	0
PRKDC	5591	broad.mit.edu	37	8	48866265	48866265	+	Silent	SNP	T	T	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:48866265T>C	ENST00000314191.2	-	7	692	c.636A>G	c.(634-636)gtA>gtG	p.V212V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.V212V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	212					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGGGCTCTCTTACTGCTGATG	0.403000								Non-homologous end-joining					6	43					0	0	0.029380	0	0
DENND5A	23258	broad.mit.edu	37	11	9200582	9200582	+	Silent	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:9200582G>C	ENST00000328194.3	-	7	1814	c.1494C>G	c.(1492-1494)ctC>ctG	p.L498L	DENND5A_ENST00000530044.1_Silent_p.L498L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	498										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACTGAACTTTGAGATCCTTAT	0.393000													4	76					0	0	0.009096	0	0
NPC1L1	29881	broad.mit.edu	37	7	44556830	44556830	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:44556830G>T	ENST00000289547.4	-	16	3399	c.3344C>A	c.(3343-3345)cCg>cAg	p.P1115Q	NPC1L1_ENST00000381160.3_Missense_Mutation_p.P1088Q|NPC1L1_ENST00000546276.1_Missense_Mutation_p.P1042Q	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1115					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			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)	CTCAAAAGCCGGGTCTGTTCC	0.592000													33	145					4.92203e-23	6.64653e-23	0.086207	1	0
PTPRO	5800	broad.mit.edu	37	12	15704555	15704555	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:15704555G>T	ENST00000281171.4	+	15	2838	c.2508G>T	c.(2506-2508)ctG>ctT	p.L836L	PTPRO_ENST00000445537.2_Silent_p.L25L|PTPRO_ENST00000442921.2_Silent_p.L25L|PTPRO_ENST00000348962.2_Silent_p.L836L|PTPRO_ENST00000542557.1_Silent_p.L25L|PTPRO_ENST00000544244.1_Silent_p.L25L	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	836						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TAATTGGACTGTTGCTTGTTA	0.353000													54	50					8.28887e-21	1.10818e-20	0.048971	1	0
EHMT1	79813	broad.mit.edu	37	9	140652427	140652427	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:140652427C>G	ENST00000460843.1	+	9	1492	c.1465C>G	c.(1465-1467)Ctc>Gtc	p.L489V	EHMT1_ENST00000334856.6_Missense_Mutation_p.L458V|EHMT1_ENST00000462484.1_Missense_Mutation_p.L489V|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	489					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTCCCTGGATCTCCGAGTCAA	0.522000													5	83					0	0	0.029380	0	0
TRPM4	54795	broad.mit.edu	37	19	49704027	49704027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:49704027C>T	ENST00000252826.5	+	19	3064	c.2938C>T	c.(2938-2940)Cag>Tag	p.Q980*	TRPM4_ENST00000427978.2_Nonsense_Mutation_p.Q835*|TRPM4_ENST00000355712.5_Nonsense_Mutation_p.Q626*	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	980					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCAGATTCCCCAGGAGGACAT	0.617000													8	19					0	0	0.058154	0	0
VPS11	55823	broad.mit.edu	37	11	118939979	118939979	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:118939979G>T	ENST00000300793.6	+	3	300	c.258G>T	c.(256-258)gtG>gtT	p.V86V	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	87					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AACTACGGGTGACACACCTGT	0.512000													5	77					0.014758	0.0153276	0.014758	1	0
RBP3	5949	broad.mit.edu	37	10	48387868	48387868	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:48387868G>A	ENST00000224600.4	-	1	3123	c.3010C>T	c.(3010-3012)Cct>Tct	p.P1004S		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1004	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCATTCTCAGGGATATGGGCT	0.602000													8	35					0	0	0.047766	0	0
SYNGR2	9144	broad.mit.edu	37	17	76167873	76167873	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:76167873C>T	ENST00000588282.1	+	3	626	c.620C>T	c.(619-621)tCa>tTa	p.S207L	SYNGR2_ENST00000590201.1_Silent_p.F121F|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000585591.1_Silent_p.F177F|SYNGR2_ENST00000225777.3_Silent_p.F177F|SYNGR2_ENST00000589711.1_3'UTR	NM_004710.3	NP_004701.1	O43760	SNG2_HUMAN	synaptogyrin 2	0						integral to plasma membrane				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			TGGACGACTTCATCCAGAATT	0.632000													14	74					0	0	0.024245	0	0
LPAR5	57121	broad.mit.edu	37	12	6730295	6730295	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:6730295G>T	ENST00000329858.4	-	2	876	c.120C>A	c.(118-120)aaC>aaA	p.N40K	LPAR5_ENST00000431922.1_Missense_Mutation_p.N40K|LPAR5_ENST00000540335.1_5'UTR	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	40						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.N40K(1)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						GGGCTAGCGCGTTGAGGGGGA	0.637000													8	7					5.18039e-06	5.90676e-06	0.038147	1	0
HELB	92797	broad.mit.edu	37	12	66698701	66698701	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:66698701C>T	ENST00000247815.4	+	2	437	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	126					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AAAAACATATCTGTGCTCTCT	0.363000													5	74					0	0	0.021553	0	0
MUC16	94025	broad.mit.edu	37	19	9088056	9088056	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:9088056G>T	ENST00000397910.4	-	1	3962	c.3759C>A	c.(3757-3759)ctC>ctA	p.L1253L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1253	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CGTGTGCTCCGAGGTGGATGC	0.512000													77	615					9.11151e-29	1.25209e-28	0.048971	1	0
GPAM	57678	broad.mit.edu	37	10	113919791	113919791	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:113919791G>C	ENST00000348367.4	-	17	1977	c.1780C>G	c.(1780-1782)Ctg>Gtg	p.L594V	GPAM_ENST00000423155.1_Missense_Mutation_p.L594V|GPAM_ENST00000369425.1_Missense_Mutation_p.L594V			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	594					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CTCTTGTTCAGAACTGCATAA	0.507000													7	75					0	0	0.029380	0	0
TPTEP1	387590	broad.mit.edu	37	22	17128607	17128607	+	RNA	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:17128607A>T	ENST00000426585.1	+	0	442																											CCATTGTGGCATGCCACACTC	0.502000													4	6					0	0	0.029380	0	0
COL5A3	50509	broad.mit.edu	37	19	10103535	10103535	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:10103535G>T	ENST00000264828.3	-	21	1901	c.1816C>A	c.(1816-1818)Ccc>Acc	p.P606T		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	606	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GAGCCTCTGGGGCCAAGCAGT	0.577000													10	45					7.03913e-09	8.59563e-09	0.093190	1	0
PCDHA8	56140	broad.mit.edu	37	5	140223131	140223131	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:140223131C>G	ENST00000531613.1	+	1	2225	c.2225C>G	c.(2224-2226)tCc>tGc	p.S742C	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S742C|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGTGCTCCAGTGCGGTG	0.672000													4	41					0	0	0.009096	0	0
NLRC4	58484	broad.mit.edu	37	2	32476636	32476636	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:32476636G>A	ENST00000404025.2	-	5	785	c.297C>T	c.(295-297)gaC>gaT	p.D99D	NLRC4_ENST00000402280.1_Silent_p.D99D|NLRC4_ENST00000360906.5_Silent_p.D99D|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	99					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GAGCCAAATCGTCCAAGTCTC	0.383000													7	106					0	0	0.038147	0	0
MICAL2	9645	broad.mit.edu	37	11	12261023	12261023	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:12261023A>T	ENST00000256194.4	+	17	2393	c.2105A>T	c.(2104-2106)gAg>gTg	p.E702V	MICAL2_ENST00000379612.3_Missense_Mutation_p.E702V|MICAL2_ENST00000342902.5_Missense_Mutation_p.E702V|MICAL2_ENST00000537344.1_Missense_Mutation_p.E702V|MICAL2_ENST00000527546.1_Missense_Mutation_p.E702V	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	702						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCCAATCAAGAGTGTGGGAGC	0.502000													4	33					0	0	0.014758	0	0
FRMD4B	23150	broad.mit.edu	37	3	69242992	69242992	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:69242992A>T	ENST00000542259.1	-	18	1810	c.1359T>A	c.(1357-1359)ttT>ttA	p.F453L	FRMD4B_ENST00000478263.1_Missense_Mutation_p.F159L|FRMD4B_ENST00000398540.3_Missense_Mutation_p.F507L			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	507						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		GTTGTATTAGAAAATTACTCT	0.358000													3	20					0	0	0.004672	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37199526	37199526	+	RNA	SNP	A	A	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:37199526A>C	ENST00000425901.2	+	0	2679					NR_033753.2																						CAGTTTTTACACAAGTTGTAA	0.373000													62	55					0	0	0.048971	0	0
BIRC6	57448	broad.mit.edu	37	2	32694488	32694488	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:32694488G>T	ENST00000421745.2	+	30	6287	c.6153G>T	c.(6151-6153)caG>caT	p.Q2051H		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2051					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAGTTTTGCAGAGCACATTTC	0.373000													10	51					2.74318e-10	3.42031e-10	0.058154	1	0
MTMR4	9110	broad.mit.edu	37	17	56572638	56572638	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:56572638C>G	ENST00000323456.5	-	16	2989	c.2865G>C	c.(2863-2865)caG>caC	p.Q955H	MTMR4_ENST00000579925.1_Missense_Mutation_p.Q898H	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	955						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACCTTCTCTCTGAGCCCACT	0.557000													8	82					0	0	0.047766	0	0
THBS2	7058	broad.mit.edu	37	6	169632128	169632128	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:169632128A>T	ENST00000366787.3	-	14	2347	c.2098T>A	c.(2098-2100)Tgg>Agg	p.W700R	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	700					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGGTTGGGCCAGCCGTCCAGG	0.682000													4	21					0	0	0.014758	0	0
TNC	3371	broad.mit.edu	37	9	117793890	117793890	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:117793890C>A	ENST00000350763.4	-	23	6273	c.5862G>T	c.(5860-5862)aaG>aaT	p.K1954N	TNC_ENST00000535648.1_Missense_Mutation_p.K1499N|TNC_ENST00000423613.2_Missense_Mutation_p.K1681N|TNC_ENST00000537320.1_Missense_Mutation_p.K1317N|TNC_ENST00000345230.3_Missense_Mutation_p.K1317N|TNC_ENST00000346706.3_Missense_Mutation_p.K1408N|TNC_ENST00000341037.4_Missense_Mutation_p.K1772N|TNC_ENST00000340094.3_Missense_Mutation_p.K1590N|TNC_ENST00000542877.1_Missense_Mutation_p.K1591N	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1954	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTGCCTGGATCTTGGCTGTGT	0.517000													8	60					1.08611e-07	1.29423e-07	0.080935	1	0
NLRP11	204801	broad.mit.edu	37	19	56321267	56321267	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:56321267C>G	ENST00000443188.1	-	5	1419	c.709G>C	c.(709-711)Gag>Cag	p.E237Q	NLRP11_ENST00000589093.1_Missense_Mutation_p.E237Q|NLRP11_ENST00000360133.3_Missense_Mutation_p.E237Q|NLRP11_ENST00000589824.2_Missense_Mutation_p.E237Q|NLRP11_ENST00000592953.1_Missense_Mutation_p.E138Q	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	237	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACATTTAACTCGAATCTTATG	0.483000													14	73					0	0	0.105934	0	0
KCNH5	27133	broad.mit.edu	37	14	63447716	63447716	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:63447716C>T	ENST00000322893.7	-	6	1084	c.816G>A	c.(814-816)ggG>ggA	p.G272G	KCNH5_ENST00000420622.2_Silent_p.G272G|KCNH5_ENST00000394968.1_Silent_p.G214G|KCNH5_ENST00000394964.2_Silent_p.G214G	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	272					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTCCACCGGGCCCCACGAAAG	0.428000													12	61					0	0	0.093190	0	0
SPOPL	339745	broad.mit.edu	37	2	139316728	139316728	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:139316728T>C	ENST00000280098.4	+	6	996	c.617T>C	c.(616-618)gTg>gCg	p.V206A		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	206	BTB.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AGTTTTTTCGTGAGAGGACAA	0.338000													7	90					0	0	0.047766	0	0
XKR3	150165	broad.mit.edu	37	22	17280689	17280689	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:17280689G>A	ENST00000331428.5	-	3	663	c.561C>T	c.(559-561)ctC>ctT	p.L187L		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	187						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTCGTATAGTGAGACTGATAT	0.363000													16	186					0	0	0.028581	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90499922	90499922	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:90499922C>A	ENST00000325643.5	+	4	586	c.520C>A	c.(520-522)Cac>Aac	p.H174N		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		TGCTAAGGCCCACCAGCCGCA	0.647000													11	52					1.08611e-07	1.29423e-07	0.080935	1	0
ATF7	11016	broad.mit.edu	37	12	53910986	53910986	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:53910986C>T	ENST00000420353.2	-	12	1536	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	ATF7_ENST00000328463.7_Missense_Mutation_p.E474K|RP11-793H13.10_ENST00000591834.1_Intron|ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000548446.2_Missense_Mutation_p.E474K|ATF7_ENST00000456903.4_Missense_Mutation_p.E463K|ATF7_ENST00000415113.1_Missense_Mutation_p.E442K|RP11-793H13.3_ENST00000548347.1_RNA	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	474	Essential for binding adenovirus 2 E1A.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						ATGCTCAGTTCTGTCCTTTGG	0.582000													11	274					0	0	0.043863	0	0
KIF2B	84643	broad.mit.edu	37	17	51901222	51901222	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:51901222C>A	ENST00000268919.4	+	1	984	c.828C>A	c.(826-828)aaC>aaA	p.N276K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	276	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAGCCTCCAACGAGTTGGTGT	0.562000													16	58					1.02788e-11	1.29912e-11	0.033300	1	0
CHRM3	1131	broad.mit.edu	37	1	240071237	240071237	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:240071237C>A	ENST00000255380.4	+	5	1265	c.486C>A	c.(484-486)atC>atA	p.I162I		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	162					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TTCTGGTCATCAGCTTTGACA	0.507000													20	65					1.50039e-11	1.89146e-11	0.062417	1	0
SNHG14	104472715	broad.mit.edu	37	15	25318311	25318311	+	RNA	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:25318311G>A	ENST00000549804.2	+	0	817				SNHG14_ENST00000551077.1_RNA|SNORD116-9_ENST00000384000.1_RNA																							CAAAATGAGTGAGAACTCATA	0.448000													19	125					0	0	0.043863	0	0
SEC13	6396	broad.mit.edu	37	3	10354341	10354341	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:10354341C>G	ENST00000397117.1	-	4	787	c.196G>C	c.(196-198)Gac>Cac	p.D66H	SEC13_ENST00000350697.3_Missense_Mutation_p.D80H|SEC13_ENST00000383801.2_Missense_Mutation_p.D126H|SEC13_ENST00000337354.4_Missense_Mutation_p.D83H|SEC13_ENST00000397109.3_Missense_Mutation_p.D66H			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	80					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						ACTTTCCGGTCATAGGAGCAC	0.567000													3	50					0	0	0.009096	0	0
SMARCA2	6595	broad.mit.edu	37	9	2182167	2182167	+	Silent	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:2182167G>C	ENST00000382203.1	+	31	4595	c.4386G>C	c.(4384-4386)cgG>cgC	p.R1462R	SMARCA2_ENST00000382194.1_Silent_p.R1444R|SMARCA2_ENST00000357248.2_Silent_p.R1444R|SMARCA2_ENST00000302401.3_Silent_p.R150R|SMARCA2_ENST00000349721.2_Silent_p.R1462R|SMARCA2_ENST00000324954.5_Silent_p.R108R|SMARCA2_ENST00000382186.1_Silent_p.R126R|SMARCA2_ENST00000382185.1_Silent_p.R108R			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1462	Bromo.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATAAGTACCGGAGCCTAGGCG	0.428000													35	317					0	0	0.074837	0	0
OSBPL3	26031	broad.mit.edu	37	7	24901333	24901333	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:24901333G>T	ENST00000313367.2	-	10	1377	c.926C>A	c.(925-927)tCa>tAa	p.S309*	OSBPL3_ENST00000409069.1_Nonsense_Mutation_p.S278*|OSBPL3_ENST00000396429.1_Nonsense_Mutation_p.S309*|OSBPL3_ENST00000396431.1_Nonsense_Mutation_p.S278*|OSBPL3_ENST00000431825.2_Nonsense_Mutation_p.S278*|OSBPL3_ENST00000352860.1_Nonsense_Mutation_p.S278*|OSBPL3_ENST00000353930.1_Nonsense_Mutation_p.S309*	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	309					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ATCTAGTGTTGACAAATTAGG	0.383000													10	111					1.58986e-06	1.84839e-06	0.069234	1	0
HEXIM1	10614	broad.mit.edu	37	17	43227077	43227077	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:43227077G>A	ENST00000332499.2	+	1	2394	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	174	Basic region; mediates nuclear localization and interaction with 7SK snRNA and NR3C1.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GACCTGGGAAGAGAAGAAAAA	0.552000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	45					0	0	0.014758	0	0
KDM3B	51780	broad.mit.edu	37	5	137750928	137750928	+	Splice_Site	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:137750928G>A	ENST00000314358.5	+	12	3507	c.3307_splice	c.e12+1	p.A1103_splice	KDM3B_ENST00000542866.1_Splice_Site_p.A135_splice|KDM3B_ENST00000394866.1_Splice_Site_p.A759_splice	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1103					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TCCTGGCACAGGTAAGGAAAT	0.378000													7	63					0	0	0.029380	0	0
KRT25	147183	broad.mit.edu	37	17	38907272	38907272	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:38907272A>T	ENST00000312150.4	-	5	951	c.891T>A	c.(889-891)aaT>aaA	p.N297K		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	297	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CAGTCAGCTCATTCCGGGCTG	0.468000													7	105					0	0	0.038147	0	0
CCDC54	84692	broad.mit.edu	37	3	107096565	107096565	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:107096565G>A	ENST00000261058.1	+	1	378	c.131G>A	c.(130-132)gGa>gAa	p.G44E		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	44										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GATTCAACTGGATATCCCACT	0.398000													24	227					0	0	0.083992	0	0
DAXX	1616	broad.mit.edu	37	6	33289173	33289173	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:33289173T>C	ENST00000374542.5	-	3	583	c.379A>G	c.(379-381)Atc>Gtc	p.I127V	DAXX_ENST00000414083.2_Missense_Mutation_p.I52V|DAXX_ENST00000266000.6_Missense_Mutation_p.I127V|DAXX_ENST00000477162.1_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	127	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AGCTCATTGATGTAGACATAG	0.582000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								18	44					0	0	0.062417	0	0
KLHL3	26249	broad.mit.edu	37	5	137045486	137045486	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:137045486C>G	ENST00000508657.1	-	3	812	c.98G>C	c.(97-99)cGt>cCt	p.R33P	KLHL3_ENST00000394937.3_Missense_Mutation_p.R65P|KLHL3_ENST00000309755.4_Missense_Mutation_p.R65P	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	65						cytoplasm|cytoskeleton	actin binding|structural molecule activity	p.R65H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CAGGACCACACGGTGGGCTTC	0.547000													12	73					0	0	0.024245	0	0
SMC4	10051	broad.mit.edu	37	3	160129835	160129835	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:160129835G>A	ENST00000357388.3	+	6	1266	c.815G>A	c.(814-816)cGg>cAg	p.R272Q	SMC4_ENST00000469762.1_Missense_Mutation_p.R247Q|SMC4_ENST00000462787.1_Missense_Mutation_p.R272Q|SMC4_ENST00000360111.2_Missense_Mutation_p.R272Q|SMC4_ENST00000470240.1_3'UTR|SMC4_ENST00000344722.5_Missense_Mutation_p.R272Q|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	272				R -> Q (in Ref. 6; AAC72361).	cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTCTTGTGTCGGAGAGTTGAA	0.338000													7	67					0	0	0.029380	0	0
OR56A1	120796	broad.mit.edu	37	11	6048134	6048134	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:6048134C>G	ENST00000316650.5	-	1	837	c.801G>C	c.(799-801)ttG>ttC	p.L267F		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACGTTTGTCAACACCACAA	0.517000													20	74					0	0	0.091800	0	0
XRN1	54464	broad.mit.edu	37	3	142094782	142094782	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:142094782G>A	ENST00000264951.4	-	25	2953	c.2836C>T	c.(2836-2838)Cat>Tat	p.H946Y	XRN1_ENST00000392981.2_Missense_Mutation_p.H946Y	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	946					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGGTCTCCATGAGGGCTGAAT	0.393000													7	91					0	0	0.029380	0	0
ARGFX	503582	broad.mit.edu	37	3	121305236	121305236	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:121305236C>G	ENST00000334384.3	+	4	747	c.737C>G	c.(736-738)tCt>tGt	p.S246C		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	246						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TCCAGCTCTTCTTTCCACTGT	0.468000													13	165					0	0	0.105934	0	0
ADCY3	109	broad.mit.edu	37	2	25061436	25061436	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:25061436C>A	ENST00000260600.5	-	7	2262	c.1411G>T	c.(1411-1413)Gag>Tag	p.E471*	ADCY3_ENST00000405392.1_Nonsense_Mutation_p.E104*	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	471					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCGCCTGGCTCCACATCAAAC	0.577000													4	60					5.9392e-07	6.9762e-07	0.021553	1	0
UNK	85451	broad.mit.edu	37	17	73813435	73813435	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:73813435G>C	ENST00000293218.3	+	10	1361	c.1361G>C	c.(1360-1362)aGc>aCc	p.S454T	UNK_ENST00000589666.1_Missense_Mutation_p.S378T			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	378							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCCTAGGCAGCCCGTCTAAC	0.682000													9	19					0	0	0.105934	0	0
OR8U1	219417	broad.mit.edu	37	11	56143559	56143559	+	Missense_Mutation	SNP	C	C	A	rs74603674		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:56143559C>A	ENST00000302270.1	+	1	460	c.460C>A	c.(460-462)Cta>Ata	p.L154I		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CTATAGCTTCCTAATGGCACT	0.438000													34	72					2.08457e-15	2.72541e-15	0.045705	1	0
MAGEA11	4110	broad.mit.edu	37	X	148797986	148797986	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:148797986G>T	ENST00000355220.5	+	5	942	c.840G>T	c.(838-840)aaG>aaT	p.K280N	MAGEA11_ENST00000333104.4_Missense_Mutation_p.K251N	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	280	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TTGATGTGAAGGAAGTGGACC	0.473000													18	42					6.94344e-10	8.60661e-10	0.038395	1	0
PTPRD	5789	broad.mit.edu	37	9	8636819	8636819	+	Silent	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:8636819G>C	ENST00000381196.4	-	10	633	c.90C>G	c.(88-90)ccC>ccG	p.P30P	PTPRD_ENST00000540109.1_Silent_p.P30P|PTPRD_ENST00000537002.1_Silent_p.P30P|PTPRD_ENST00000486161.1_Silent_p.P30P|PTPRD_ENST00000356435.5_Silent_p.P30P|PTPRD_ENST00000360074.4_Silent_p.P30P|PTPRD_ENST00000355233.5_Silent_p.P30P|PTPRD_ENST00000463477.1_Silent_p.P30P|PTPRD_ENST00000397611.3_Silent_p.P30P|PTPRD_ENST00000397617.3_Silent_p.P30P|PTPRD_ENST00000358503.5_Silent_p.P30P|PTPRD_ENST00000397606.3_Silent_p.P30P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	30	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P30P(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCTGATCAACGGGTGTTCGTG	0.428000										TSP Lung(15;0.13)			24	38					0	0	0.083992	0	0
MYH4	4622	broad.mit.edu	37	17	10360771	10360771	+	Silent	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:10360771A>T	ENST00000255381.2	-	16	1973	c.1863T>A	c.(1861-1863)gcT>gcA	p.A621A	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	621	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGAAGAGGAAAGCCAGAGTCT	0.473000													4	51					0	0	0.009096	0	0
NLRP13	126204	broad.mit.edu	37	19	56424579	56424579	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:56424579C>A	ENST00000588751.1	-	5	628	c.604G>T	c.(604-606)Gta>Tta	p.V202L	NLRP13_ENST00000342929.3_Missense_Mutation_p.V202L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	202							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CGGATATATACGTGGTCTTTA	0.498000													45	81					3.77016e-25	5.11442e-25	0.045515	1	0
SLC9A2	6549	broad.mit.edu	37	2	103321031	103321031	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:103321031C>T	ENST00000233969.2	+	10	2016	c.1874C>T	c.(1873-1875)aCa>aTa	p.T625I		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	625						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			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						CACAGTCTGACAGCCGACACA	0.428000													6	75					0	0	0.029380	0	0
SAR1B	51128	broad.mit.edu	37	5	133942682	133942682	+	Silent	SNP	A	A	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:133942682A>C	ENST00000402673.2	-	7	833	c.555T>G	c.(553-555)ggT>ggG	p.G185G	SAR1B_ENST00000502539.1_Silent_p.G117G|SAR1B_ENST00000507419.1_Silent_p.G117G|SAR1B_ENST00000439578.1_Silent_p.G185G|SAR1B_ENST00000509937.1_Silent_p.G117G	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	SAR1 homolog B (S. cerevisiae)	185					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi cisterna membrane	GTP binding|GTPase activity|metal ion binding			kidney(2)|lung(2)|urinary_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTCTCCGTAACCTTGTCTTT	0.433000													9	141					0	0	0.069234	0	0
OR6S1	341799	broad.mit.edu	37	14	21109585	21109585	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:21109585G>C	ENST00000320704.3	-	1	265	c.266C>G	c.(265-267)tCa>tGa	p.S89*		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GTGTTGCCTTGAGAGGAAATT	0.463000													16	161					0	0	0.043863	0	0
TMEM132D	121256	broad.mit.edu	37	12	129694113	129694113	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:129694113C>A	ENST00000422113.2	-	5	1721	c.1395G>T	c.(1393-1395)gaG>gaT	p.E465D	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	465						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACTCCAGCAGCTCTGTCACTG	0.572000													8	51					7.48243e-07	8.77496e-07	0.058154	1	0
MMRN1	22915	broad.mit.edu	37	4	90872813	90872813	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:90872813G>A	ENST00000394980.1	+	8	3495	c.3176G>A	c.(3175-3177)gGa>gAa	p.G1059E	MMRN1_ENST00000394981.1_Missense_Mutation_p.G362E|MMRN1_ENST00000264790.2_Missense_Mutation_p.G1059E|MMRN1_ENST00000508372.1_Missense_Mutation_p.G801E			Q13201	MMRN1_HUMAN	multimerin 1	1059	EGF-like.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGCATAAATGGAAGAACTAGC	0.423000													3	54					0	0	0.009096	0	0
TNC	3371	broad.mit.edu	37	9	117840257	117840257	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:117840257A>T	ENST00000350763.4	-	7	3050	c.2639T>A	c.(2638-2640)aTg>aAg	p.M880K	TNC_ENST00000535648.1_Missense_Mutation_p.M880K|TNC_ENST00000423613.2_Missense_Mutation_p.M880K|TNC_ENST00000537320.1_Missense_Mutation_p.M880K|TNC_ENST00000345230.3_Missense_Mutation_p.M880K|TNC_ENST00000346706.3_Missense_Mutation_p.M880K|TNC_ENST00000341037.4_Missense_Mutation_p.M880K|TNC_ENST00000340094.3_Missense_Mutation_p.M880K|TNC_ENST00000542877.1_Missense_Mutation_p.M880K	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	880	Fibronectin type-III 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTTGCTTGACATGTCACCTCT	0.502000													27	47					0	0	0.037714	0	0
MZF1	7593	broad.mit.edu	37	19	59080758	59080758	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:59080758C>T	ENST00000215057.2	-	5	1218	c.658G>A	c.(658-660)Ggg>Agg	p.G220R	MZF1_ENST00000594108.1_Missense_Mutation_p.G220R|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_Missense_Mutation_p.G220R|MZF1_ENST00000599369.1_Missense_Mutation_p.G220R|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	220					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		AGCACGGTCCCACATCTCTGA	0.627000													4	98					0	0	0.021553	0	0
RNASE10	338879	broad.mit.edu	37	14	20978753	20978753	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:20978753C>T	ENST00000430083.1	+	2	611	c.207C>T	c.(205-207)ctC>ctT	p.L69L	RNASE10_ENST00000328444.5_Silent_p.L41L			Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	41						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		ATCAACCGCTCAATGAATTTT	0.532000													22	174					0	0	0.062417	0	0
UNC79	57578	broad.mit.edu	37	14	94088193	94088193	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:94088193C>A	ENST00000553484.1	+	31	4834	c.4680C>A	c.(4678-4680)atC>atA	p.I1560I	UNC79_ENST00000256339.4_Silent_p.I1361I|UNC79_ENST00000555664.1_Silent_p.I1538I|UNC79_ENST00000393151.2_Silent_p.I1538I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1538						integral to membrane				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						CTGCGTATATCGCACAAAGAC	0.498000													42	109					1.06522e-23	1.43975e-23	0.045515	1	0
EXOC5	10640	broad.mit.edu	37	14	57675355	57675355	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:57675355G>A	ENST00000413566.2	-	18	2458	c.2099C>T	c.(2098-2100)tCt>tTt	p.S700F	EXOC5_ENST00000340918.7_Missense_Mutation_p.S635F	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	700					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						AAGGCGGGCAGATCTATAATC	0.433000													25	164					0	0	0.064281	0	0
KPRP	448834	broad.mit.edu	37	1	152733201	152733201	+	Silent	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:152733201C>G	ENST00000368773.1	+	2	1195	c.1137C>G	c.(1135-1137)ctC>ctG	p.L379L	KPRP_ENST00000606109.1_Silent_p.L379L	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	379	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACGTCCACTCCCAAGCTTCT	0.647000													17	67					0	0	0.055883	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062497	76062497	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:76062497G>A	ENST00000260045.3	-	5	1802	c.1697C>T	c.(1696-1698)tCt>tTt	p.S566F		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	566					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						GGTTAGCTGAGATTCCAAGTT	0.413000													12	88					0	0	0.020292	0	0
AQR	9716	broad.mit.edu	37	15	35192825	35192825	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:35192825G>A	ENST00000156471.5	-	20	2466	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	747						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GACTTTACCTGAAAGGGGGTA	0.403000													18	40					0	0	0.043863	0	0
COL19A1	1310	broad.mit.edu	37	6	70866084	70866084	+	Silent	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:70866084T>A	ENST00000322773.4	+	32	2247	c.2145T>A	c.(2143-2145)ggT>ggA	p.G715G	COL19A1_ENST00000393344.1_Silent_p.G337G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	715	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AAGAAGGAGGTGCTGGTGAGC	0.488000													5	21					0	0	0.021553	0	0
SORCS2	57537	broad.mit.edu	37	4	7640086	7640086	+	Missense_Mutation	SNP	G	G	A	rs35727450		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:7640086G>A	ENST00000507866.2	+	4	789	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	SORCS2_ENST00000511199.1_3'UTR|SORCS2_ENST00000329016.9_Missense_Mutation_p.R55Q	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	227						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CTCAGTGACCGGGACCAGAGC	0.572000													11	40					0	0	0.024245	0	0
RBP2	5948	broad.mit.edu	37	3	139173649	139173649	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:139173649A>T	ENST00000232217.2	-	3	332	c.276T>A	c.(274-276)gaT>gaA	p.D92E	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	92					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	ACACAAGGACATCACCTTCCC	0.512000													7	206					0	0	0.047766	0	0
PCDH15	65217	broad.mit.edu	37	10	55581695	55581695	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:55581695C>T	ENST00000361849.3	-	34	6191	c.5797G>A	c.(5797-5799)Gaa>Aaa	p.E1933K	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1931K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1908K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1928K|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.E785K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1862K|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1891K|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1931					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGTTTTGTTCAGATGTGATT	0.338000										HNSCC(58;0.16)			5	35					0	0	0.014758	0	0
GABRE	2564	broad.mit.edu	37	X	151123873	151123873	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:151123873C>G	ENST00000370328.3	-	8	1157	c.1104G>C	c.(1102-1104)caG>caC	p.Q368H	GABRE_ENST00000370325.1_Intron|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	368					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTTTTGTCTGGTTGTAGA	0.498000													29	72					0	0	0.045705	0	0
RGS22	26166	broad.mit.edu	37	8	101020662	101020662	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:101020662G>A	ENST00000360863.6	-	15	2496	c.2302C>T	c.(2302-2304)Ctc>Ttc	p.L768F	RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523287.1_Missense_Mutation_p.L587F|RGS22_ENST00000523437.1_Missense_Mutation_p.L756F	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	768	Poly-Leu.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGAAGGAGGAGAAGGATATAT	0.383000													6	137					0	0	0.021553	0	0
GJC1	10052	broad.mit.edu	37	17	42882276	42882276	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:42882276G>A	ENST00000426548.1	-	3	1179	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L	GJC1_ENST00000590758.1_Silent_p.L304L|GJC1_ENST00000592524.1_Silent_p.L304L|GJC1_ENST00000330514.4_Silent_p.L304L	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	304					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				GCATTGGACAGTTCGGTGTAC	0.502000													6	129					0	0	0.029380	0	0
SGK1	6446	broad.mit.edu	37	6	134495930	134495930	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:134495930C>T	ENST00000237305.7	-	1	104	c.16G>A	c.(16-18)Gag>Aag	p.E6K	SGK1_ENST00000475719.2_Missense_Mutation_p.E6K|SGK1_ENST00000367858.5_Intron|SGK1_ENST00000528577.1_Intron|SGK1_ENST00000367857.5_5'UTR|SGK1_ENST00000413996.3_Intron	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	6	Necessary for localization to the cytoplasm.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TTAGCAGCCTCAGTTTTCACC	0.592000													23	52					0	0	0.083992	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153847397	153847397	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:153847397G>C	ENST00000356448.4	+	4	1442	c.1158G>C	c.(1156-1158)aaG>aaC	p.K386N	ARHGEF26_ENST00000465817.1_Missense_Mutation_p.K386N|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.K386N	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	386					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						ACAAGGAAAAGGCCCTTGACA	0.378000													16	22					0	0	0.028581	0	0
RRN3P1	730092	broad.mit.edu	37	16	21812117	21812117	+	RNA	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:21812117C>A	ENST00000546471.1	-	0	1741																											TTGGATCCTGCAAGTTTTTCC	0.383000													13	203					0.00244969	0.00260643	0.020292	1	0
CCDC181	57821	broad.mit.edu	37	1	169390792	169390792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:169390792G>A	ENST00000545005.1	-	4	1384	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Nonsense_Mutation_p.Q293*|CCDC181_ENST00000367806.3_Nonsense_Mutation_p.Q293*					coiled-coil domain containing 181									p.Q293*(1)									AGTGGTGGCTGAGCGATATAA	0.473000													41	140					0	0	0.048971	0	0
ZNF547	284306	broad.mit.edu	37	19	57889389	57889389	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:57889389G>A	ENST00000282282.3	+	4	1195	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCACACTGGAGAACGGCCTTA	0.468000													10	180					0	0	0.069234	0	0
TTN	7273	broad.mit.edu	37	2	179434868	179434868	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:179434868C>G	ENST00000589042.1	-	326	76215	c.75991G>C	c.(75991-75993)Gat>Cat	p.D25331H	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D22763H|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D16458H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D16266H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D23690H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D16391H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23690							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)			CTACCACCATCAGATGCTGGT	0.438000													6	102					0	0	0.029380	0	0
NUP107	57122	broad.mit.edu	37	12	69129095	69129095	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:69129095G>A	ENST00000229179.4	+	26	2805	c.2473G>A	c.(2473-2475)Gat>Aat	p.D825N	NUP107_ENST00000539906.1_Missense_Mutation_p.D796N|NUP107_ENST00000378905.2_Missense_Mutation_p.D586N|NUP107_ENST00000401003.3_Intron	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	825					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GTTGTTTGTTGATGGAGGGTG	0.383000													7	142					0	0	0.047766	0	0
CABIN1	23523	broad.mit.edu	37	22	24458476	24458476	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:24458476A>T	ENST00000398319.2	+	13	2069	c.1684A>T	c.(1684-1686)Aga>Tga	p.R562*	CABIN1_ENST00000405822.2_Nonsense_Mutation_p.R512*|CABIN1_ENST00000263119.5_Nonsense_Mutation_p.R562*	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	562					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GACCAAAGGCAGAAGCTCTGC	0.542000													8	34					0	0	0.047766	0	0
GPR128	84873	broad.mit.edu	37	3	100362407	100362407	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:100362407A>G	ENST00000273352.3	+	8	1144	c.876A>G	c.(874-876)atA>atG	p.I292M	GPR128_ENST00000475887.1_Intron	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	292					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CAACATTTATACATACAAATG	0.348000													5	83					0	0	0.014758	0	0
CCR6	1235	broad.mit.edu	37	6	167550021	167550021	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:167550021C>G	ENST00000341935.5	+	3	855	c.303C>G	c.(301-303)ttC>ttG	p.F101L	CCR6_ENST00000349984.4_Missense_Mutation_p.F101L|CCR6_ENST00000400926.2_Missense_Mutation_p.F101L	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	101					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CTCTCCCATTCTGGGCAGTGA	0.478000													5	84					0	0	0.014758	0	0
OLFM4	10562	broad.mit.edu	37	13	53624766	53624766	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:53624766G>T	ENST00000219022.2	+	5	1471	c.1393G>T	c.(1393-1395)Ggc>Tgc	p.G465C		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	465	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AGGGAAAGAGGGCAAACTAGA	0.393000													34	61					1.36615e-20	1.81989e-20	0.054565	1	0
DIS3L2	129563	broad.mit.edu	37	2	233001238	233001238	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:233001238C>G	ENST00000360410.4	+	9	1094	c.818C>G	c.(817-819)tCt>tGt	p.S273C	DIS3L2_ENST00000409307.1_Silent_p.L253L|DIS3L2_ENST00000325385.7_Silent_p.L253L|DIS3L2_ENST00000273009.6_Silent_p.L253L			Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	0							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TCCTCAAACTCTTGGCTGATA	0.443000													20	221					0	0	0.076483	0	0
ZNF578	147660	broad.mit.edu	37	19	53014518	53014518	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:53014518C>G	ENST00000421239.2	+	6	1128	c.884C>G	c.(883-885)tCc>tGc	p.S295C		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGTGGAAAGTCCTTCAGTTAC	0.413000													52	87					0	0	0.048971	0	0
KCNQ2	3785	broad.mit.edu	37	20	62046308	62046308	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:62046308C>T	ENST00000354587.3	-	11	1565	c.1389G>A	c.(1387-1389)cgG>cgA	p.R463R	KCNQ2_ENST00000344462.3_Silent_p.R451R|KCNQ2_ENST00000360480.3_Silent_p.R463R|KCNQ2_ENST00000370222.3_Silent_p.R463R|KCNQ2_ENST00000359125.2_Silent_p.R491R|KCNQ2_ENST00000430658.1_Silent_p.R461R|KCNQ2_ENST00000370226.1_Silent_p.R461R|KCNQ2_ENST00000370224.1_Silent_p.R463R|KCNQ2_ENST00000357249.2_Silent_p.R473R|KCNQ2_ENST00000359689.1_Silent_p.R491R			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	491					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCTGGCGTGCCCGGCTGCGGT	0.677000													8	14					0	0	0.047766	0	0
WDR49	151790	broad.mit.edu	37	3	167245669	167245669	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:167245669G>A	ENST00000308378.3	-	11	1792	c.1487C>T	c.(1486-1488)tCt>tTt	p.S496F	WDR49_ENST00000453925.2_Intron|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.S321F	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	496										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GCAGTCTGCAGAGGAGGAGAT	0.423000													10	94					0	0	0.058154	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34802578	34802578	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:34802578C>A	ENST00000192788.5	+	6	780	c.609C>A	c.(607-609)gtC>gtA	p.V203V	UHRF1BP1_ENST00000452449.2_Silent_p.V203V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	203										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGACCCAGTCACCACTCCAT	0.433000													9	87					2.80697e-09	3.44757e-09	0.080935	1	0
AADACL3	126767	broad.mit.edu	37	1	12785656	12785656	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:12785656C>A	ENST00000332530.3	+	3	762	c.536C>A	c.(535-537)cCc>cAc	p.P179H	AADACL3_ENST00000359318.5_Missense_Mutation_p.P249H	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	249							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCATGAGCCCATGAATGAA	0.502000													74	115					5.44642e-36	7.54747e-36	0.048971	1	0
ZNF223	7766	broad.mit.edu	37	19	44570267	44570267	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:44570267G>T	ENST00000591793.1	+	7	699	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	ZNF223_ENST00000434772.3_Nonsense_Mutation_p.E96*			Q9UK11	ZN223_HUMAN	zinc finger protein 223	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				AGGACCACATGAAGGGTGGTC	0.453000													13	35					4.3838e-07	5.16563e-07	0.105934	1	0
MROH2B	133558	broad.mit.edu	37	5	41004477	41004477	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:41004477C>A	ENST00000399564.4	-	37	4615	c.4165G>T	c.(4165-4167)Gtg>Ttg	p.V1389L	MROH2B_ENST00000506092.2_Missense_Mutation_p.V944L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GTTTGCAGCACTATTTCCTTG	0.468000													42	160					1.76056e-25	2.39048e-25	0.042209	1	0
ANKMY1	51281	broad.mit.edu	37	2	241494377	241494377	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:241494377C>A	ENST00000401804.1	-	3	380	c.242G>T	c.(241-243)gGt>gTt	p.G81V	ANKMY1_ENST00000403283.1_Missense_Mutation_p.G160V|ANKMY1_ENST00000391987.1_5'UTR|ANKMY1_ENST00000373318.2_Missense_Mutation_p.G81V|ANKMY1_ENST00000361678.4_Missense_Mutation_p.G81V|ANKMY1_ENST00000405523.3_Missense_Mutation_p.G81V|ANKMY1_ENST00000405002.1_5'UTR|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000536462.1_Missense_Mutation_p.G34V|ANKMY1_ENST00000272972.3_5'UTR|ANKMY1_ENST00000406958.1_Missense_Mutation_p.G81V|ANKMY1_ENST00000373320.4_5'UTR			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	0							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CTCCTGCACACCCTGGACGAG	0.567000													15	35					7.92952e-12	1.00391e-11	0.091800	1	0
POLG2	11232	broad.mit.edu	37	17	62481962	62481962	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:62481962C>A	ENST00000539111.2	-	5	1060	c.993G>T	c.(991-993)gtG>gtT	p.V331V	POLG2_ENST00000582501.1_5'UTR	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	331					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CACAAGGAACCACATTTTTTC	0.413000													17	72					9.16793e-09	1.11309e-08	0.033300	1	0
SKAP1	8631	broad.mit.edu	37	17	46262170	46262170	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:46262170C>A	ENST00000336915.6	-	7	551	c.482G>T	c.(481-483)gGt>gTt	p.G161V	SKAP1_ENST00000584924.1_Missense_Mutation_p.G161V	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	161	PH.		G -> S (in dbSNP:rs2278868).		positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						CATCCGTACACCGTAGCCCTT	0.547000													18	178					3.52763e-06	4.05035e-06	0.033300	1	0
KDM3B	51780	broad.mit.edu	37	5	137756415	137756415	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:137756415G>T	ENST00000314358.5	+	15	3936	c.3736G>T	c.(3736-3738)Gtg>Ttg	p.V1246L	KDM3B_ENST00000542866.1_Missense_Mutation_p.V278L|KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000394866.1_Missense_Mutation_p.V902L	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1246					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CCTGAGGTCGGTGCTCAATAA	0.453000													12	162					1.49906e-05	1.67822e-05	0.020292	1	0
SCAF11	9169	broad.mit.edu	37	12	46320468	46320468	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:46320468C>T	ENST00000465950.1	-	1	3280	c.2071G>A	c.(2071-2073)Gat>Aat	p.D691N	SCAF11_ENST00000419565.2_Missense_Mutation_p.D1006N|SCAF11_ENST00000369367.3_Missense_Mutation_p.D1006N|SCAF11_ENST00000549162.1_Missense_Mutation_p.D814N			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1006					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TCATCAGCATCTAGATGGATG	0.383000													81	133					0	0	0.048971	0	0
BMP2K	55589	broad.mit.edu	37	4	79832345	79832345	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:79832345C>T	ENST00000335016.5	+	16	2810	c.2644C>T	c.(2644-2646)Caa>Taa	p.Q882*	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	882						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						GAACCTCCCTCAACACAGGTT	0.483000													12	103					0	0	0.028581	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147600733	147600733	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:147600733C>A	ENST00000361727.3	+	14	2691	c.2175C>A	c.(2173-2175)atC>atA	p.I725I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	725	Fibrinogen C-terminal.				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			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)			GGCCTGGAATCCAGAAATGTG	0.532000										HNSCC(39;0.1)			5	18					0.000602214	0.000650567	0.014758	1	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362444	105362444	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:105362444G>A	ENST00000369774.4	-	15	2807	c.2531C>T	c.(2530-2532)tCg>tTg	p.S844L	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S816L|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S711L|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S679L|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	844	SH3 4.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TGTCATGTACGAGGTGGCTGG	0.632000													4	59					0	0	0.014758	0	0
RANBP17	64901	broad.mit.edu	37	5	170640726	170640726	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:170640726G>C	ENST00000523189.1	+	21	2487	c.2323G>C	c.(2323-2325)Gaa>Caa	p.E775Q	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	775					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACTTATGGCAGAACTTATGCA	0.418000			T	TRD@	ALL								7	90					0	0	0.038147	0	0
SYNE4	163183	broad.mit.edu	37	19	36496283	36496283	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:36496283C>T	ENST00000324444.3	-	6	1035	c.924G>A	c.(922-924)caG>caA	p.Q308Q	SYNE4_ENST00000340477.5_Silent_p.Q195Q	NM_001039876.1	NP_001034965.1			spectrin repeat containing, nuclear envelope family member 4																		CTAAGCGTTTCTGGTGGCCGA	0.562000													3	31					0	0	0.004672	0	0
KIAA1009	22832	broad.mit.edu	37	6	84865201	84865201	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:84865201C>G	ENST00000403245.3	-	22	2924	c.2810G>C	c.(2809-2811)aGa>aCa	p.R937T	KIAA1009_ENST00000257766.4_Missense_Mutation_p.R861T|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	937					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GGGATATCTTCTCTTCAGAAT	0.323000													9	73					0	0	0.105934	0	0
MTERFD3	80298	broad.mit.edu	37	12	107372117	107372117	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:107372117C>T	ENST00000552029.1	-	2	2444	c.376G>A	c.(376-378)Gag>Aag	p.E126K	C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000392830.2_Missense_Mutation_p.E126K|MTERFD3_ENST00000240050.4_Missense_Mutation_p.E126K			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						AACTCTTCCTCATTTTTGCAG	0.413000													21	155					0	0	0.055883	0	0
OR1C1	26188	broad.mit.edu	37	1	247921672	247921672	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:247921672C>T	ENST00000408896.2	-	1	310	c.37G>A	c.(37-39)Gtc>Atc	p.V13I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CCCAGAAGGACGAATTCCCTG	0.408000													9	61					0	0	0.058154	0	0
ZNF462	58499	broad.mit.edu	37	9	109690339	109690339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:109690339G>A	ENST00000277225.5	+	3	4435	c.4146G>A	c.(4144-4146)tgG>tgA	p.W1382*	ZNF462_ENST00000457913.1_Nonsense_Mutation_p.W1382*|ZNF462_ENST00000441147.2_Nonsense_Mutation_p.W227*			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1382					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTTCCATCTGGGACATCACTA	0.527000													16	73					0	0	0.024245	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838533	16838533	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:16838533C>A	ENST00000355661.3	-	11	1690	c.1680G>T	c.(1678-1680)gtG>gtT	p.V560V	PLEKHA7_ENST00000448080.2_Silent_p.V560V|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.V560V			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	560	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGGAGCGGGGCACCTCTAGCA	0.687000													14	43					1.3612e-06	1.58879e-06	0.024245	1	0
STXBP5L	9515	broad.mit.edu	37	3	120764330	120764330	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:120764330C>A	ENST00000273666.6	+	5	689	c.418C>A	c.(418-420)Ctt>Att	p.L140I	STXBP5L_ENST00000472879.1_Missense_Mutation_p.L140I|STXBP5L_ENST00000497029.1_Missense_Mutation_p.L140I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.L140I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.L140I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	140					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTTGTGGAACCTTAGACAAAA	0.338000													30	92					1.36615e-20	1.81989e-20	0.054565	1	0
PCDHB12	56124	broad.mit.edu	37	5	140589561	140589561	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:140589561C>A	ENST00000239450.2	+	1	1271	c.1082C>A	c.(1081-1083)cCa>cAa	p.P361Q	PCDHB12_ENST00000541609.1_Missense_Mutation_p.P24Q	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		361	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAAACACTCCAGAGACTGTG	0.443000													6	102					8.12818e-05	8.95068e-05	0.029380	1	0
FGFR2	2263	broad.mit.edu	37	10	123324982	123324982	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:123324982C>T	ENST00000358487.5	-	3	618	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000346997.2_Missense_Mutation_p.E116K|FGFR2_ENST00000457416.2_Missense_Mutation_p.E116K|FGFR2_ENST00000369060.4_Missense_Mutation_p.E116K|FGFR2_ENST00000359354.2_Missense_Mutation_p.E116K|FGFR2_ENST00000369056.1_Missense_Mutation_p.E116K|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369061.4_Missense_Mutation_p.E116K|FGFR2_ENST00000351936.6_Missense_Mutation_p.E116K|FGFR2_ENST00000360144.3_Intron	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	116	Ig-like C2-type 1.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TACCAAGTTTCACTGTCTACA	0.488000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				6	62					0	0	0.029380	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38345517	38345517	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:38345517C>A	ENST00000436615.3	+	6	876	c.386C>A	c.(385-387)tCa>tAa	p.S129*	RAPGEFL1_ENST00000456989.2_Nonsense_Mutation_p.S184*|RAPGEFL1_ENST00000544503.1_Nonsense_Mutation_p.S178*|RAPGEFL1_ENST00000264644.6_Nonsense_Mutation_p.S129*|RAPGEFL1_ENST00000540388.1_3'UTR	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	335					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						AGCCGCCTTTCAGCATCTGTG	0.537000													10	184					4.3838e-07	5.16563e-07	0.105934	1	0
HTR1E	3354	broad.mit.edu	37	6	87725673	87725673	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:87725673C>T	ENST00000305344.4	+	2	1324	c.621C>T	c.(619-621)caC>caT	p.H207H	HTR1E_ENST00000369584.1_Silent_p.H207H	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	207					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GGATTTACCACGCGGCCAAGA	0.448000													33	100					0	0	0.041601	0	0
IL2	3558	broad.mit.edu	37	4	123374908	123374908	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:123374908C>A	ENST00000226730.4	-	3	592	c.308G>T	c.(307-309)aGg>aTg	p.R103M		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	103					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity	p.R103M(1)		endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		GATTAAGTCCCTGGGTCTTAA	0.368000			T	TNFRSF17	intestinal T-cell lymphoma								19	50					1.56452e-12	1.99956e-12	0.043863	1	0
DMXL1	1657	broad.mit.edu	37	5	118454691	118454691	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:118454691G>A	ENST00000311085.8	+	8	1005	c.925G>A	c.(925-927)Gct>Act	p.A309T	DMXL1_ENST00000539542.1_Missense_Mutation_p.A309T	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	309										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGTTCAAAATGCTTTAGAAGT	0.313000													8	49					0	0	0.038147	0	0
FRG2B	441581	broad.mit.edu	37	10	135438867	135438867	+	Silent	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:135438867G>C	ENST00000443774.1	-	4	625	c.576C>G	c.(574-576)gcC>gcG	p.A192A	FRG2B_ENST00000425520.1_Silent_p.A191A			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	191						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		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)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CCCACACCTGGGCTAGGTCTT	0.567000													21	85					0	0	0.055883	0	0
LIG1	3978	broad.mit.edu	37	19	48638992	48638992	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:48638992C>T	ENST00000263274.7	-	16	1887	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K	LIG1_ENST00000427526.2_Missense_Mutation_p.E459K|LIG1_ENST00000536218.1_Missense_Mutation_p.E422K	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	490					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TTTCTGGCCTCTGCTGTCTTG	0.582000								Nucleotide excision repair (NER)					12	100					0	0	0.049695	0	0
C12orf36	283422	broad.mit.edu	37	12	13526177	13526177	+	Silent	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:13526177C>G	ENST00000318426.2	-	3	595	c.378G>C	c.(376-378)gtG>gtC	p.V126V	C12orf36_ENST00000527705.2_Silent_p.V126V					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		ATTGATGCCTCACATCTTCCT	0.403000													13	115					0	0	0.093190	0	0
IGSF10	285313	broad.mit.edu	37	3	151171376	151171376	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:151171376C>T	ENST00000282466.3	-	3	510	c.511G>A	c.(511-513)Gat>Aat	p.D171N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	171					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACAAATGTATCTGGGTGGAGC	0.413000													12	221					0	0	0.093190	0	0
TRAV17	28666	broad.mit.edu	37	14	22466152	22466152	+	RNA	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:22466152C>A	ENST00000390445.2	+	0	229																											AGAAGAGGATCCTCAGGCCTT	0.418000													15	46					4.14922e-12	5.28017e-12	0.028581	1	0
LRRC28	123355	broad.mit.edu	37	15	99828101	99828101	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:99828101G>T	ENST00000301981.3	+	5	570	c.330G>T	c.(328-330)ctG>ctT	p.L110L	LRRC28_ENST00000447360.2_Silent_p.L110L|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000442993.2_Silent_p.L110L|LRRC28_ENST00000422500.2_Silent_p.L110L	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	110										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TTGGTCGTCTGAGAGCTTTAC	0.388000													6	50					5.9392e-07	6.9762e-07	0.021553	1	0
PLB1	151056	broad.mit.edu	37	2	28763256	28763256	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:28763256G>A	ENST00000422425.2	+	12	799	c.755G>A	c.(754-756)tGc>tAc	p.C252Y	PLB1_ENST00000327757.5_Missense_Mutation_p.C241Y	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	241	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCCTGTAATTGCTCAGAGGAG	0.617000													8	10					0	0	0.047766	0	0
RCAN1	1827	broad.mit.edu	37	21	35896005	35896005	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr21:35896005T>C	ENST00000481448.1	-	3	712	c.226A>G	c.(226-228)Aaa>Gaa	p.K76E	RCAN1_ENST00000381132.2_Missense_Mutation_p.K31E|RCAN1_ENST00000381135.3_Missense_Mutation_p.K76E|RCAN1_ENST00000482533.1_5'UTR|RCAN1_ENST00000313806.4_Missense_Mutation_p.K86E|RCAN1_ENST00000443408.2_5'UTR|RCAN1_ENST00000487990.1_5'UTR|RCAN1_ENST00000399272.1_Missense_Mutation_p.K5E|RCAN1_ENST00000489903.1_5'UTR			P53805	RCAN1_HUMAN	regulator of calcineurin 1	86					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						GACTCAAATTTGGCCTGAAAA	0.363000													4	53					0	0	0.014758	0	0
ZFP36	7538	broad.mit.edu	37	19	39898698	39898698	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:39898698G>A	ENST00000597629.1	+	2	432	c.358G>A	c.(358-360)Gag>Aag	p.E120K	ZFP36_ENST00000594045.1_3'UTR|ZFP36_ENST00000248673.3_Missense_Mutation_p.E114K			P26651	TTP_HUMAN	ZFP36 ring finger protein	114					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GACCTTCTCAGAGAGTGGGCG	0.647000													6	86					0	0	0.021553	0	0
ANKFN1	162282	broad.mit.edu	37	17	54559908	54559908	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:54559908G>A	ENST00000318698.2	+	17	2327	c.2292G>A	c.(2290-2292)taG>taA	p.*764*	ANKFN1_ENST00000566473.2_Intron	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	0										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GTTTCACCTAGAAATATTAAC	0.423000													9	142					0	0	0.093190	0	0
ZIK1	284307	broad.mit.edu	37	19	58096344	58096344	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:58096344A>T	ENST00000597850.1	+	2	273	c.58A>T	c.(58-60)Atg>Ttg	p.M20L	ZIK1_ENST00000599456.1_Intron|ZIK1_ENST00000307468.4_Intron|ZIK1_ENST00000598726.1_Intron|ZIK1_ENST00000536878.2_Intron	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGAAACACATATGGACCTCAC	0.517000													8	23					0	0	0.069234	0	0
OR8B12	219858	broad.mit.edu	37	11	124412862	124412862	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:124412862G>A	ENST00000306842.2	-	1	713	c.689C>T	c.(688-690)aCa>aTa	p.T230I		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CCTGCCTTCTGTAGAACTGTT	0.433000													19	34					0	0	0.049695	0	0
LGR5	8549	broad.mit.edu	37	12	71977971	71977971	+	Silent	SNP	C	C	T	rs149642519		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:71977971C>T	ENST00000266674.5	+	18	2492	c.2181C>T	c.(2179-2181)gtC>gtT	p.V727V	LGR5_ENST00000540815.2_Silent_p.V703V|LGR5_ENST00000536515.1_Silent_p.V655V			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	727						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GCTACATGGTCGCTCTCATCT	0.557000													71	122					0	0	0.048971	0	0
CWH43	80157	broad.mit.edu	37	4	48994052	48994052	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:48994052C>T	ENST00000226432.4	+	4	639	c.456C>T	c.(454-456)tcC>tcT	p.S152S	CWH43_ENST00000513409.1_Silent_p.S125S	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	152					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ATCAGATGTCCAACAAAGTGA	0.388000													16	105					0	0	0.033300	0	0
SPON1	10418	broad.mit.edu	37	11	14278235	14278235	+	RNA	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:14278235G>A	ENST00000310358.7	+	0	1841							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AGAGAAAGATGAAGGTACGTT	0.388000													9	43					0	0	0.069234	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110467403	110467403	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:110467403C>G	ENST00000261739.4	+	11	1363	c.1197C>G	c.(1195-1197)atC>atG	p.I399M	C12orf76_ENST00000546651.2_Intron	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	399										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						GAGATTTCATCAAATTGGAAT	0.458000													7	45					0	0	0.038147	0	0
PTPN13	5783	broad.mit.edu	37	4	87706464	87706464	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:87706464G>A	ENST00000436978.1	+	39	6694	c.6214G>A	c.(6214-6216)Gag>Aag	p.E2072K	PTPN13_ENST00000511467.1_Missense_Mutation_p.E2072K|PTPN13_ENST00000411767.2_Missense_Mutation_p.E2067K|PTPN13_ENST00000316707.6_Missense_Mutation_p.E1876K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E2048K	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2067						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TGTTGTGGATGAGGAAGCCCA	0.363000													3	17					0	0	0.009096	0	0
EPHB1	2047	broad.mit.edu	37	3	134851763	134851763	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:134851763G>T	ENST00000398015.3	+	5	1539	c.1169G>T	c.(1168-1170)cGc>cTc	p.R390L	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	390	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.R390L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACGGAGTGCCGCGTCTCCATC	0.617000													32	62					4.4194e-11	5.56183e-11	0.054565	1	0
SERPINA12	145264	broad.mit.edu	37	14	94955987	94955987	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:94955987G>C	ENST00000341228.2	-	5	1818	c.1023C>G	c.(1021-1023)atC>atG	p.I341M	SERPINA12_ENST00000556881.1_Missense_Mutation_p.I341M	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	341					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GATGAGGGGCGATCTTGGTGA	0.587000													20	38					0	0	0.043863	0	0
ABCC12	94160	broad.mit.edu	37	16	48142414	48142414	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:48142414C>G	ENST00000311303.3	-	17	2653	c.2308G>C	c.(2308-2310)Gaa>Caa	p.E770Q	ABCC12_ENST00000448542.1_Missense_Mutation_p.E767Q|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	770						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGGGGGGATTCAGTCTGGATG	0.517000													9	50					0	0	0.069234	0	0
FAM46A	55603	broad.mit.edu	37	6	82459798	82459798	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:82459798G>C	ENST00000369754.3	-	3	1312	c.1000C>G	c.(1000-1002)Caa>Gaa	p.Q334E	FAM46A_ENST00000320172.6_Missense_Mutation_p.Q315E|FAM46A_ENST00000369756.3_Missense_Mutation_p.Q396E			Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	315										endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		ATATACCTTTGAAGGGTCTTG	0.498000													3	37					0	0	0.009096	0	0
CLIP3	25999	broad.mit.edu	37	19	36508559	36508559	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:36508559C>G	ENST00000360535.4	-	11	1676	c.1449G>C	c.(1447-1449)caG>caC	p.Q483H	CLIP3_ENST00000593074.1_Missense_Mutation_p.Q483H|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	483					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGCTCACCTCTGAATACGGG	0.622000													3	73					0	0	0.004672	0	0
CLASP2	23122	broad.mit.edu	37	3	33648210	33648210	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:33648210C>T	ENST00000399362.4	-	16	1920	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	CLASP2_ENST00000468888.2_Missense_Mutation_p.E524K|CLASP2_ENST00000480013.1_Missense_Mutation_p.E290K|CLASP2_ENST00000307312.7_Missense_Mutation_p.E12K|CLASP2_ENST00000313350.6_Missense_Mutation_p.E296K|CLASP2_ENST00000539981.1_Missense_Mutation_p.E275K|CLASP2_ENST00000333778.6_Missense_Mutation_p.E300K|CLASP2_ENST00000461133.3_Missense_Mutation_p.E290K|CLASP2_ENST00000359576.5_Missense_Mutation_p.E523K|CLASP2_ENST00000487200.1_Missense_Mutation_p.E296K	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	524										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TATAATGTTTCAGCTTCACCA	0.358000													28	146					0	0	0.034045	0	0
SPRY4	81848	broad.mit.edu	37	5	141694196	141694196	+	Missense_Mutation	SNP	C	C	T	rs141394327		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:141694196C>T	ENST00000344120.4	-	3	733	c.547G>A	c.(547-549)Gag>Aag	p.E183K	SPRY4_ENST00000434127.2_Missense_Mutation_p.E160K	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	160	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACAGGCCTCGCACAGCAAG	0.637000									Testicular Cancer, Familial Clustering of				5	109					0	0	0.014758	0	0
STRIP2	57464	broad.mit.edu	37	7	129096471	129096471	+	Silent	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:129096471T>A	ENST00000249344.2	+	9	1066	c.1026T>A	c.(1024-1026)cgT>cgA	p.R342R	STRIP2_ENST00000435494.2_Silent_p.R342R	NM_020704.2	NP_065755.1			striatin interacting protein 2																		GAGGCCGCCGTGGCTCTCGAA	0.562000													4	11					0	0	0.021553	0	0
FEM1C	56929	broad.mit.edu	37	5	114860290	114860290	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:114860290G>A	ENST00000274457.3	-	3	2130	c.1569C>T	c.(1567-1569)gtC>gtT	p.V523V		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	523						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		CCGAGTCTCTGACGTTCACAT	0.428000													28	180					0	0	0.030593	0	0
EYA4	2070	broad.mit.edu	37	6	133804194	133804194	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:133804194G>A	ENST00000367895.5	+	13	1596	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	EYA4_ENST00000531901.1_Missense_Mutation_p.E384K|EYA4_ENST00000525849.1_Missense_Mutation_p.E355K|EYA4_ENST00000355286.6_Missense_Mutation_p.E355K|EYA4_ENST00000355167.3_Missense_Mutation_p.E378K|EYA4_ENST00000430974.2_Missense_Mutation_p.E330K|EYA4_ENST00000431403.2_Missense_Mutation_p.E378K|EYA4_ENST00000452339.2_Missense_Mutation_p.E324K	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	378					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GGATTTGGATGAAACCATCAT	0.348000													6	66					0	0	0.047766	0	0
UGT2A1	10941	broad.mit.edu	37	4	70460323	70460323	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:70460323G>T	ENST00000503640.1	-	5	1231	c.1176C>A	c.(1174-1176)ccC>ccA	p.P392P	UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000286604.4_Silent_p.P392P|UGT2A1_ENST00000514019.1_Silent_p.P558P|UGT2A1_ENST00000512704.1_Silent_p.P348P|UGT2A2_ENST00000457664.2_Silent_p.P401P	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	392					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CAGCAAACATGGGAACTCCCA	0.448000													21	39					3.5997e-14	4.65695e-14	0.069288	1	0
TTN	7273	broad.mit.edu	37	2	179611757	179611757	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:179611757G>T	ENST00000360870.5	-	46	15592	c.15370C>A	c.(15370-15372)Cca>Aca	p.P5124T	TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1230	Ig-like 31.						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)			GTGGGGTTTGGTCCTCCAGTA	0.473000													17	108					3.41278e-10	4.24447e-10	0.033300	1	0
ARID4B	51742	broad.mit.edu	37	1	235383692	235383692	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:235383692C>T	ENST00000264183.3	-	15	1829	c.1332G>A	c.(1330-1332)gaG>gaA	p.E444E	ARID4B_ENST00000366603.2_Silent_p.E444E|ARID4B_ENST00000349213.3_Silent_p.E444E	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	444	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTATATTCCTCTCCTCCTCCA	0.308000													7	26					0	0	0.029380	0	0
COG7	91949	broad.mit.edu	37	16	23430062	23430062	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:23430062C>T	ENST00000307149.5	-	8	1281	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	366					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TTGCTCTCTTCCATGTCGCCA	0.512000													3	30					0	0	0.014758	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570648	47570648	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:47570648G>A	ENST00000253048.5	-	15	2914	c.2877C>T	c.(2875-2877)ttC>ttT	p.F959F	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	959							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGATGTGGCTGAACTGCTGCA	0.662000													10	94					0	0	0.062417	0	0
GON4L	54856	broad.mit.edu	37	1	155722997	155722997	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:155722997G>A	ENST00000437809.1	-	29	5962	c.5840C>T	c.(5839-5841)tCa>tTa	p.S1947L	GON4L_ENST00000368331.1_Missense_Mutation_p.S1947L|GON4L_ENST00000271883.5_Missense_Mutation_p.S1947L			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1947					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCACTCACCTGAAACAGGCAT	0.537000													16	66					0	0	0.028581	0	0
TP53	7157	broad.mit.edu	37	17	7577143	7577143	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:7577143C>T	ENST00000420246.2	-	8	927	c.795G>A	c.(793-795)ctG>ctA	p.L265L	TP53_ENST00000455263.2_Silent_p.L265L|TP53_ENST00000269305.4_Silent_p.L265L|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Silent_p.L265L|TP53_ENST00000445888.2_Silent_p.L265L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	265	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.L265L(2)|p.L265P(1)|p.N263fs*5(1)|p.L265_K305del41(1)|p.G266fs*9(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGTTCCGTCCCAGTAGATTAC	0.522000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	38					0	0	0.033300	0	0
TMEM131	23505	broad.mit.edu	37	2	98373611	98373611	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:98373611C>T	ENST00000186436.5	-	41	5831	c.5603G>A	c.(5602-5604)aGa>aAa	p.R1868K		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1868						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CGAGCTTCTTCTTCCAATCGT	0.507000													3	39					0	0	0.009096	0	0
CUL7	9820	broad.mit.edu	37	6	43019092	43019092	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:43019092C>T	ENST00000535468.1	-	4	1185	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	CUL7_ENST00000265348.3_Missense_Mutation_p.E283K	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	283	Interaction with TP53.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTCAACTCCTCAGGAGCAGAG	0.607000													7	104					0	0	0.029380	0	0
BIRC6	57448	broad.mit.edu	37	2	32613848	32613848	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:32613848C>T	ENST00000421745.2	+	4	810	c.676C>T	c.(676-678)Cat>Tat	p.H226Y		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	226					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCTTCCTCATCATGTGTTGAA	0.383000													6	31					0	0	0.029380	0	0
BAZ2B	29994	broad.mit.edu	37	2	160206251	160206251	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:160206251C>A	ENST00000392783.2	-	28	5326	c.4831G>T	c.(4831-4833)Ggc>Tgc	p.G1611C	BAZ2B_ENST00000343439.5_Missense_Mutation_p.G1511C|BAZ2B_ENST00000392782.1_Missense_Mutation_p.G1575C|BAZ2B_ENST00000355831.2_Missense_Mutation_p.G1577C	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GGATTTAAGCCAACAGGATTC	0.413000													36	110					3.6622e-26	4.98625e-26	0.064281	1	0
MYH4	4622	broad.mit.edu	37	17	10367998	10367998	+	Splice_Site	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:10367998G>A	ENST00000255381.2	-	6	643	c.533_splice	c.e6+1	p.T178_splice	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	178	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATCTACATACGTAATCAAGAT	0.338000													5	31					0	0	0.038147	0	0
FAM169B	283777	broad.mit.edu	37	15	98984376	98984376	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:98984376G>A	ENST00000558256.1	-	6	632	c.383C>T	c.(382-384)tCc>tTc	p.S128F	FAM169B_ENST00000332908.4_Missense_Mutation_p.S128F	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	128										large_intestine(3)|lung(3)|urinary_tract(1)	7						CACGTCCTCGGAATTTCCTGG	0.537000													6	56					0	0	0.058154	0	0
ZNF71	58491	broad.mit.edu	37	19	57133485	57133485	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:57133485G>T	ENST00000328070.6	+	3	1064	c.830G>T	c.(829-831)cGa>cTa	p.R277L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	277						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GAGTGCGGGCGAGCCTTCAGC	0.657000													10	48					0.00136819	0.00145993	0.093190	1	0
KRTAP13-3	337960	broad.mit.edu	37	21	31798064	31798064	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr21:31798064C>G	ENST00000390690.2	-	1	222	c.167G>C	c.(166-168)tGt>tCt	p.C56S		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	56	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						GGTCTCCTGACAGCCCCTATA	0.602000													12	27					0	0	0.028581	0	0
NEIL3	55247	broad.mit.edu	37	4	178274590	178274590	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:178274590C>G	ENST00000264596.3	+	8	1286	c.1168C>G	c.(1168-1170)Ctt>Gtt	p.L390V	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	390					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AACTACAACTCTTGTCTTGAC	0.363000								Base excision repair (BER), DNA glycosylases					6	54					0	0	0.021553	0	0
CDH9	1007	broad.mit.edu	37	5	26906096	26906096	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:26906096G>A	ENST00000231021.4	-	5	955	c.783C>T	c.(781-783)gtC>gtT	p.V261V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	261	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GGTTGTTGTTGACATCTGTCA	0.448000													43	75					0	0	0.048971	0	0
MYPN	84665	broad.mit.edu	37	10	69935135	69935135	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:69935135G>A	ENST00000358913.5	+	12	3108	c.2620G>A	c.(2620-2622)Gat>Aat	p.D874N	MYPN_ENST00000354393.2_Missense_Mutation_p.D599N|MYPN_ENST00000540630.1_Missense_Mutation_p.D874N	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	874						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGTGAATGATGATAACATTCG	0.418000													7	31					0	0	0.038147	0	0
KCNA4	3739	broad.mit.edu	37	11	30033300	30033300	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:30033300A>C	ENST00000328224.6	-	2	2159	c.926T>G	c.(925-927)aTa>aGa	p.I309R		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	309						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CACAATGGCTATGCCCCTTGC	0.498000													17	125					0	0	0.038395	0	0
LRBA	987	broad.mit.edu	37	4	151829938	151829938	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:151829938C>T	ENST00000535741.1	-	10	1706	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	LRBA_ENST00000510413.1_Silent_p.G411G|LRBA_ENST00000507224.1_Silent_p.G411G|LRBA_ENST00000357115.3_Silent_p.G411G			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	411						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TAGAGAGTTTCCCATCGTACA	0.383000													8	117					0	0	0.058154	0	0
NPAT	4863	broad.mit.edu	37	11	108059910	108059910	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:108059910G>T	ENST00000278612.8	-	6	584	c.479C>A	c.(478-480)cCa>cAa	p.P160Q		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	160	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|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)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTGGCCACTTGGTCGAGTAAC	0.443000													5	60					0.0215528	0.0222597	0.021553	1	0
RAD1	5810	broad.mit.edu	37	5	34911807	34911807	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:34911807C>T	ENST00000382038.2	-	4	1837	c.418G>A	c.(418-420)Gag>Aag	p.E140K	RAD1_ENST00000341754.4_Missense_Mutation_p.E140K	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 homolog (S. pombe)	140					DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AGGGTCTCCTCAGGTTCCTGT	0.433000								Other conserved DNA damage response genes					13	48					0	0	0.093190	0	0
BCORL1	63035	broad.mit.edu	37	X	129149328	129149328	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:129149328C>T	ENST00000540052.1	+	3	2624	c.2580C>T	c.(2578-2580)atC>atT	p.I860I	BCORL1_ENST00000218147.7_Silent_p.I860I|BCORL1_ENST00000359304.2_Silent_p.I860I|BCORL1_ENST00000303743.5_Silent_p.I860I	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	860					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGGCGCCCATCAGGCCCACCA	0.642000													10	13					0	0	0.080935	0	0
SLC16A6	9120	broad.mit.edu	37	17	66267264	66267264	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:66267264C>T	ENST00000327268.4	-	6	1201	c.1037G>A	c.(1036-1038)gGa>gAa	p.G346E	SLC16A6_ENST00000580666.1_Missense_Mutation_p.G346E|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	346						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AAAACCAGCTCCGATCCTTCC	0.453000													6	80					0	0	0.029380	0	0
WDFY2	115825	broad.mit.edu	37	13	52293419	52293419	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:52293419G>T	ENST00000298125.5	+	5	600	c.420G>T	c.(418-420)tgG>tgT	p.W140C		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	140							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		AATTTGCCTGGCACTGCTCTG	0.547000													30	49					5.45727e-16	7.14125e-16	0.037714	1	0
ABCA8	10351	broad.mit.edu	37	17	66883571	66883571	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:66883571A>C	ENST00000269080.2	-	23	3238	c.3101T>G	c.(3100-3102)gTt>gGt	p.V1034G	ABCA8_ENST00000586539.1_Missense_Mutation_p.V1074G|ABCA8_ENST00000430352.2_Missense_Mutation_p.V1074G	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1034						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GTACAGGGAAACATCCACCAG	0.413000													26	134					0	0	0.041601	0	0
PARP2	10038	broad.mit.edu	37	14	20824169	20824169	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:20824169C>T	ENST00000527915.1	+	11	1124	c.1119C>T	c.(1117-1119)gaC>gaT	p.D373D	PARP2_ENST00000429687.3_Silent_p.D360D|PARP2_ENST00000250416.5_Silent_p.D373D			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	373	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GCCCCCTTGACCATGAAAGTT	0.408000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					47	176					0	0	0.048971	0	0
OR2M2	391194	broad.mit.edu	37	1	248343686	248343686	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:248343686C>A	ENST00000359682.2	+	1	399	c.399C>A	c.(397-399)acC>acA	p.T133T		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TAAGATATACCAATCTCATGA	0.393000													49	169					4.17463e-26	5.67872e-26	0.048971	1	0
VEGFC	7424	broad.mit.edu	37	4	177648931	177648931	+	Splice_Site	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:177648931C>A	ENST00000280193.2	-	3	968		c.e3+1		VEGFC_ENST00000507638.1_Splice_Site	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C						angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GCAATACCCACCGTCTTGCTG	0.488000													4	56					0.0215528	0.0222597	0.021553	1	0
KDM5A	5927	broad.mit.edu	37	12	406210	406210	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:406210G>A	ENST00000399788.2	-	25	4593	c.4231C>T	c.(4231-4233)Caa>Taa	p.Q1411*	KDM5A_ENST00000382815.4_Nonsense_Mutation_p.Q1411*	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1411				Q -> QVFFGK (in Ref. 1; AAB28544).	chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GTAATACCTTGAGAACAACTC	0.413000			T	NUP98	AML								5	60					0	0	0.014758	0	0
CUL5	8065	broad.mit.edu	37	11	107917073	107917073	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:107917073G>C	ENST00000393094.2	+	3	827	c.211G>C	c.(211-213)Gag>Cag	p.E71Q		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	71					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			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)		AGATATTCTTGAGTTTATTAA	0.318000													7	53					0	0	0.047766	0	0
CNOT1	23019	broad.mit.edu	37	16	58608603	58608603	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:58608603C>G	ENST00000317147.5	-	16	2221	c.1889G>C	c.(1888-1890)gGa>gCa	p.G630A	CNOT1_ENST00000569240.1_Missense_Mutation_p.G630A|CNOT1_ENST00000441024.2_Missense_Mutation_p.G630A	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	630					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGGGGCAAGTCCGCCCAAAAT	0.438000													17	61					0	0	0.038395	0	0
APOB	338	broad.mit.edu	37	2	21232021	21232021	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:21232021C>A	ENST00000233242.1	-	26	7846	c.7719G>T	c.(7717-7719)tgG>tgT	p.W2573C		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2573					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TACGTTTAGCCCAATCTTGGA	0.453000													9	170					6.40141e-05	7.07022e-05	0.080935	1	0
FANCI	55215	broad.mit.edu	37	15	89824528	89824528	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:89824528G>T	ENST00000310775.7	+	15	1595	c.1509G>T	c.(1507-1509)gtG>gtT	p.V503V	FANCI_ENST00000300027.8_Silent_p.V503V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	503					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTAAGGCAGTGCAGGTAAGTC	0.383000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				19	39					3.99206e-14	5.16004e-14	0.043863	1	0
PCED1B	91523	broad.mit.edu	37	12	47629097	47629097	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:47629097C>T	ENST00000546455.1	+	4	982	c.251C>T	c.(250-252)tCc>tTc	p.S84F	PCED1B_ENST00000432328.1_Missense_Mutation_p.S84F					PC-esterase domain containing 1B																		GAGTTCCGCTCCGACCACCAT	0.602000													82	68					0	0	0.048971	0	0
TRPC4	7223	broad.mit.edu	37	13	38211588	38211588	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:38211588G>A	ENST00000379705.3	-	11	3243	c.2386C>T	c.(2386-2388)Ctt>Ttt	p.L796F	TRPC4_ENST00000338947.5_Missense_Mutation_p.L623F|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.L623F|TRPC4_ENST00000379681.3_Missense_Mutation_p.L801F|TRPC4_ENST00000355779.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	796	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AAATCAAAAAGGCTGAAATTC	0.453000													8	45					0	0	0.038147	0	0
KCNA3	3738	broad.mit.edu	37	1	111215974	111215974	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:111215974G>T	ENST00000369769.2	-	1	1681	c.1458C>A	c.(1456-1458)ttC>ttA	p.F486L		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	486						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCGGTGGTAGAAGTAATTGA	0.537000													31	39					8.16721e-17	1.07063e-16	0.045705	1	0
NOC2L	26155	broad.mit.edu	37	1	892383	892383	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:892383C>G	ENST00000327044.6	-	4	426	c.377G>C	c.(376-378)gGa>gCa	p.G126A	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	126						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TTCCTCCGCTCCATCCTCCTC	0.577000													6	13					0	0	0.021553	0	0
SLC6A2	6530	broad.mit.edu	37	16	55690840	55690840	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:55690840C>A	ENST00000379906.2	+	1	489	c.234C>A	c.(232-234)aaC>aaA	p.N78K	SLC6A2_ENST00000561820.1_Missense_Mutation_p.N78K|SLC6A2_ENST00000568943.1_Missense_Mutation_p.N78K|SLC6A2_ENST00000414754.3_Missense_Mutation_p.N78K|SLC6A2_ENST00000219833.8_Missense_Mutation_p.N78K|SLC6A2_ENST00000566163.1_Missense_Mutation_p.N78K	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	78					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ACCTGGCCAACGTGTGGCGCT	0.667000													27	92					2.81731e-10	3.50979e-10	0.045705	1	0
TMEM184C	55751	broad.mit.edu	37	4	148555046	148555046	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:148555046C>T	ENST00000296582.3	+	9	1584	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	337						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TGGGATGTCTCAGATATTAGA	0.383000													10	145					0	0	0.058154	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264326	61264326	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr18:61264326C>T	ENST00000344731.5	+	8	1007	c.905C>T	c.(904-906)gCc>gTc	p.A302V	SERPINB13_ENST00000269489.5_Missense_Mutation_p.A250V	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	302					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GTCCTGGCTGCCATGGGGATG	0.562000													5	85					0	0	0.014758	0	0
RBFA	79863	broad.mit.edu	37	18	77798591	77798591	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr18:77798591C>T	ENST00000306735.5	+	4	603	c.465C>T	c.(463-465)gtC>gtT	p.V155V	RBFA_ENST00000262197.7_Silent_p.V155V|RBFADN_ENST00000569722.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	155					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TGGAGGCTGTCCTGCAGAGAA	0.527000													3	33					0	0	0.004672	0	0
SCEL	8796	broad.mit.edu	37	13	78165533	78165533	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:78165533G>C	ENST00000535157.1	+	10	734	c.564G>C	c.(562-564)caG>caC	p.Q188H	SCEL_ENST00000377246.3_Missense_Mutation_p.Q210H|SCEL_ENST00000349847.3_Missense_Mutation_p.Q210H	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	210					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AATATAGGCAGATACATCCAC	0.264000													6	38					0	0	0.029380	0	0
CLDN17	26285	broad.mit.edu	37	21	31538603	31538603	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr21:31538603G>T	ENST00000286808.3	-	1	368	c.333C>A	c.(331-333)aaC>aaA	p.N111K		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	111					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.N111K(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TGGCCCTCTCGTTAGAGCCTG	0.537000													8	96					5.4927e-09	6.7128e-09	0.047766	1	0
FANCM	57697	broad.mit.edu	37	14	45628325	45628325	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:45628325G>T	ENST00000267430.5	+	9	1508	c.1423G>T	c.(1423-1425)Gat>Tat	p.D475Y	FANCM_ENST00000556036.1_Missense_Mutation_p.D475Y|FANCM_ENST00000542564.2_Missense_Mutation_p.D449Y	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	475	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAAGAAACGTGATGAGACCCG	0.299000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	20					0.0293803	0.0303228	0.029380	1	0
MRPS9	64965	broad.mit.edu	37	2	105710042	105710042	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:105710042G>A	ENST00000258455.3	+	9	985	c.875G>A	c.(874-876)aGa>aAa	p.R292K		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	292					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGAAGTGGAAGAATAAAAGTA	0.318000													6	79					0	0	0.021553	0	0
VWA3B	200403	broad.mit.edu	37	2	98750290	98750290	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:98750290C>A	ENST00000477737.1	+	7	1080	c.876C>A	c.(874-876)ttC>ttA	p.F292L	VWA3B_ENST00000451075.2_Missense_Mutation_p.F142L|VWA3B_ENST00000435344.1_Missense_Mutation_p.F292L	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	292										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						GTTTCAGATTCCACGCATTTG	0.478000													57	369					2.66076e-39	3.69065e-39	0.048971	1	0
SMYD5	10322	broad.mit.edu	37	2	73450603	73450603	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:73450603C>T	ENST00000389501.4	+	9	871	c.826C>T	c.(826-828)Cag>Tag	p.Q276*		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	276	SET.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GTTGAAGCCTCAGGACCGTGA	0.612000													7	131					0	0	0.038147	0	0
SYNE1	23345	broad.mit.edu	37	6	152590421	152590421	+	Splice_Site	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:152590421C>G	ENST00000367255.5	-	99	19175	c.18573_splice	c.e99-1	p.G6192_splice	SYNE1_ENST00000423061.1_Splice_Site_p.G6121_splice|SYNE1_ENST00000356820.4_Splice_Site_p.G716_splice|SYNE1_ENST00000265368.4_Splice_Site_p.G6192_splice|SYNE1_ENST00000341594.5_Splice_Site_p.G5804_splice|SYNE1_ENST00000448038.1_Splice_Site_p.G6121_splice	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6192					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGTGCTGTTCCCTGCTTTTAA	0.527000										HNSCC(10;0.0054)			9	68					0	0	0.047766	0	0
ACACA	31	broad.mit.edu	37	17	35591928	35591928	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:35591928G>C	ENST00000353139.5	-	25	3689	c.3208C>G	c.(3208-3210)Caa>Gaa	p.Q1070E	ACACA_ENST00000360679.3_Missense_Mutation_p.Q975E|ACACA_ENST00000335166.5_Missense_Mutation_p.Q955E|ACACA_ENST00000394406.2_Missense_Mutation_p.Q1033E	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1033					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTGGTGACTTGAGCGTGAGAG	0.388000													13	92					0	0	0.093190	0	0
MTMR12	54545	broad.mit.edu	37	5	32230288	32230288	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:32230288C>G	ENST00000382142.3	-	16	2010	c.1840G>C	c.(1840-1842)Gac>Cac	p.D614H	MTMR12_ENST00000280285.5_Missense_Mutation_p.D560H|MTMR12_ENST00000510216.1_5'UTR|MTMR12_ENST00000264934.5_Missense_Mutation_p.D504H	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	614	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGCCAGCTGTCATAGAACTCT	0.438000													7	92					0	0	0.029380	0	0
MYO1H	283446	broad.mit.edu	37	12	109865318	109865318	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:109865318G>T	ENST00000310903.5	+	19	1934	c.1828G>T	c.(1828-1830)Ggg>Tgg	p.G610W	MYO1H_ENST00000431443.2_Missense_Mutation_p.G620W			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CAAATACCTGGGGCTGATGGA	0.443000													33	128					6.31075e-24	8.5374e-24	0.048971	1	0
SFN	2810	broad.mit.edu	37	1	27189778	27189778	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:27189778C>T	ENST00000339276.4	+	1	146	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	25					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		TGGCAGCCTTCATGAAAGGCG	0.622000													6	35					0	0	0.038147	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148742285	148742285	+	Nonsense_Mutation	SNP	C	C	A	rs150666383		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:148742285C>A	ENST00000274569.4	+	2	236	c.174C>A	c.(172-174)taC>taA	p.Y58*	PCYOX1L_ENST00000514349.1_5'UTR	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	58					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGACGTGTACGAGAAGGGAA	0.627000													5	117					0.00116845	0.00124859	0.021553	1	0
MUC16	94025	broad.mit.edu	37	19	9072068	9072068	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:9072068G>T	ENST00000397910.4	-	3	15581	c.15378C>A	c.(15376-15378)acC>acA	p.T5126T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5128	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTTCACATTGGTCTCTTCTG	0.438000													69	107					1.84395e-34	2.54813e-34	0.048971	1	0
KIAA2026	158358	broad.mit.edu	37	9	5922047	5922047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:5922047G>A	ENST00000399933.3	-	8	3948	c.3949C>T	c.(3949-3951)Cag>Tag	p.Q1317*	KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.Q1287*	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1317	Ser-rich.									breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GCCTGCAGCTGAGGAGCAAAA	0.428000													29	167					0	0	0.108266	0	0
SLC6A4	6532	broad.mit.edu	37	17	28545949	28545949	+	Splice_Site	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:28545949C>A	ENST00000401766.2	-	3	856	c.343_splice	c.e3-1	p.G115_splice	SLC6A4_ENST00000261707.3_Splice_Site_p.G115_splice			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	115					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GAGGAATGCCCCTGAGGCAGA	0.527000													51	88					9.59835e-30	1.32145e-29	0.048971	1	0
RMDN2	151393	broad.mit.edu	37	2	38179277	38179277	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:38179277G>C	ENST00000407257.1	+	2	1066	c.919G>C	c.(919-921)Gat>Cat	p.D307H	RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Missense_Mutation_p.D307H|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.D307H|RMDN2_ENST00000417700.2_Intron					regulator of microtubule dynamics 2																		CCTGTTTGAAGATGAAGACTT	0.383000													12	124					0	0	0.080935	0	0
TRHR	7201	broad.mit.edu	37	8	110100433	110100433	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:110100433C>G	ENST00000518632.1	+	2	1043	c.692C>G	c.(691-693)tCt>tGt	p.S231C	TRHR_ENST00000311762.2_Missense_Mutation_p.S231C			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	231						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			AAAGAAAACTCTAAGACATGG	0.373000													13	87					0	0	0.093190	0	0
LRP1B	53353	broad.mit.edu	37	2	141459407	141459407	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:141459407C>A	ENST00000389484.3	-	40	7281	c.6310G>T	c.(6310-6312)Gca>Tca	p.A2104S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2104					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.A2104S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GACCCGTTTGCATGTGCTCTG	0.418000										TSP Lung(27;0.18)			21	31					5.26018e-13	6.74616e-13	0.062417	1	0
KIAA1024	23251	broad.mit.edu	37	15	79749266	79749266	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:79749266C>G	ENST00000305428.3	+	2	852	c.777C>G	c.(775-777)atC>atG	p.I259M		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	259						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AAAGGAATATCTTCAAAGAGG	0.498000													6	74					0	0	0.021553	0	0
CHPT1	56994	broad.mit.edu	37	12	102120165	102120165	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:102120165C>T	ENST00000549872.1	+	8	1349	c.1159C>T	c.(1159-1161)Cat>Tat	p.H387Y	CHPT1_ENST00000229266.3_Missense_Mutation_p.H387Y			Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	387					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GACTGCATGTCATCAAGCACC	0.388000													6	57					0	0	0.047766	0	0
SVIL	6840	broad.mit.edu	37	10	29821030	29821030	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:29821030C>A	ENST00000375398.2	-	11	2359	c.1910G>T	c.(1909-1911)cGg>cTg	p.R637L	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.R637L			O95425	SVIL_HUMAN	supervillin	637					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCTTGGTTTCCGGGACCCTCT	0.493000													11	63					9.70103e-10	1.19946e-09	0.069234	1	0
CADM2	253559	broad.mit.edu	37	3	86010712	86010712	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:86010712G>A	ENST00000383699.3	+	8	1512	c.885G>A	c.(883-885)ctG>ctA	p.L295L	CADM2_ENST00000407528.2_Silent_p.L286L|CADM2_ENST00000405615.2_Silent_p.L288L	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	286	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TTCTTTTCCTGAACAAAACGG	0.443000													9	52					0	0	0.047766	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958805	57958805	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:57958805G>A	ENST00000311591.3	+	1	900	c.843G>A	c.(841-843)gtG>gtA	p.V281V		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				ACACGGTGGTGACCCCAATGC	0.522000													14	111					0	0	0.020292	0	0
GABRA3	2556	broad.mit.edu	37	X	151376548	151376548	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:151376548G>T	ENST00000370314.4	-	7	941	c.703C>A	c.(703-705)Cag>Aag	p.Q235K	GABRA3_ENST00000370311.1_Missense_Mutation_p.Q235K|GABRA3_ENST00000535043.1_Missense_Mutation_p.Q235K	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	235					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAACCATCCTGTGCCACTTCC	0.413000													24	40					1.42536e-11	1.79994e-11	0.099896	1	0
DCDC1	341019	broad.mit.edu	37	11	30937209	30937209	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:30937209C>G	ENST00000597505.1	-	25	3501	c.3502G>C	c.(3502-3504)Gaa>Caa	p.E1168Q	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.E247Q			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCTCTGTATTCGAACTGCTGA	0.453000													6	45					0	0	0.021553	0	0
OR6C6	283365	broad.mit.edu	37	12	55688179	55688179	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:55688179C>A	ENST00000358433.2	-	1	837	c.838G>T	c.(838-840)Gcc>Tcc	p.A280S		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGTAAAGGGGCAATTGAGGTA	0.368000													6	68					0.00116845	0.00124859	0.021553	1	0
EIF4B	1975	broad.mit.edu	37	12	53413716	53413716	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:53413716G>T	ENST00000262056.9	+	4	709	c.383G>T	c.(382-384)cGt>cTt	p.R128L	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000420463.3_Missense_Mutation_p.R128L|EIF4B_ENST00000416762.3_Intron	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	128	RRM.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CGTTTACCACGTGAACCCAGC	0.428000													15	38					8.00594e-06	9.09347e-06	0.043863	1	0
GIPC2	54810	broad.mit.edu	37	1	78511976	78511976	+	Silent	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:78511976C>G	ENST00000370759.3	+	1	391	c.198C>G	c.(196-198)ctC>ctG	p.L66L	GIPC2_ENST00000476882.1_Intron	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	66						cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						TCCAGGAGCTCTACGCCCAGA	0.726000													4	11					0	0	0.029380	0	0
PPIL1	51645	broad.mit.edu	37	6	36824376	36824376	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:36824376T>A	ENST00000373699.5	-	3	517	c.266A>T	c.(265-267)gAc>gTc	p.D89V	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	89	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						GAATTTCAAGTCTGGATGAAG	0.448000													13	60					0	0	0.020292	0	0
CAGE1	285782	broad.mit.edu	37	6	7356309	7356309	+	Silent	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:7356309G>C	ENST00000502583.1	-	10	2811	c.2247C>G	c.(2245-2247)ctC>ctG	p.L749L	CAGE1_ENST00000296742.7_Intron|CAGE1_ENST00000379918.4_Silent_p.L727L|CAGE1_ENST00000512086.1_Intron|CAGE1_ENST00000338150.4_Intron	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	706										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TTTCTTCAATGAGTCTGTTGC	0.348000													3	14					0	0	0.004672	0	0
GRM1	2911	broad.mit.edu	37	6	146719982	146719982	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:146719982G>A	ENST00000392299.2	+	8	2277	c.1807G>A	c.(1807-1809)Gga>Aga	p.G603R	GRM1_ENST00000507907.1_Missense_Mutation_p.G603R|GRM1_ENST00000282753.1_Missense_Mutation_p.G603R|GRM1_ENST00000361719.2_Missense_Mutation_p.G603R|GRM1_ENST00000355289.4_Missense_Mutation_p.G603R|GRM1_ENST00000492807.2_Missense_Mutation_p.G603R			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	603					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TTCATGCCTGGGAATCCTTGT	0.478000													44	283					0	0	0.048971	0	0
XXYLT1	152002	broad.mit.edu	37	3	194947467	194947467	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:194947467G>A	ENST00000310380.6	-	2	731	c.623C>T	c.(622-624)tCg>tTg	p.S208L	XXYLT1_ENST00000429994.1_Missense_Mutation_p.S62L	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	208						integral to membrane	transferase activity, transferring glycosyl groups										CATGGCGACCGAGAGGAAGAA	0.542000													23	83					0	0	0.083992	0	0
GPR31	2853	broad.mit.edu	37	6	167570897	167570897	+	Silent	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:167570897C>G	ENST00000366834.1	-	1	920	c.423G>C	c.(421-423)ctG>ctC	p.L141L		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	141						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GGGCGACCATCAGGAGCCAGA	0.647000													8	63					0	0	0.058154	0	0
MED17	9440	broad.mit.edu	37	11	93528077	93528077	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:93528077C>T	ENST00000251871.3	+	6	1150	c.863C>T	c.(862-864)tCc>tTc	p.S288F	MED17_ENST00000533367.1_Intron	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	288					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTTTCAGGTTCCCCACATTGG	0.328000													5	26					0	0	0.014758	0	0
TTLL5	23093	broad.mit.edu	37	14	76238103	76238103	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:76238103C>G	ENST00000298832.9	+	21	2247	c.2042C>G	c.(2041-2043)tCt>tGt	p.S681C	TTLL5_ENST00000554510.1_Missense_Mutation_p.S190C|TTLL5_ENST00000556893.1_Missense_Mutation_p.S232C|TTLL5_ENST00000557636.1_Missense_Mutation_p.S695C|TTLL5_ENST00000555422.1_3'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	681					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ATAGCATTCTCTGCCTATCTC	0.448000													13	204					0	0	0.105934	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140735631	140735631	+	Silent	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:140735631A>T	ENST00000571252.1	+	1	864	c.864A>T	c.(862-864)atA>atT	p.I288I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGACAAAATATCACAGCTAT	0.438000													6	33					0	0	0.021553	0	0
BACE2	25825	broad.mit.edu	37	21	42613778	42613778	+	Silent	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr21:42613778C>G	ENST00000330333.6	+	4	1114	c.651C>G	c.(649-651)tcC>tcG	p.S217S	BACE2_ENST00000347667.4_Silent_p.S217S|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Silent_p.S217S	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	217					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TCTTCGACTCCCTGGTGACAC	0.572000													7	101					0	0	0.047766	0	0
CACYBP	27101	broad.mit.edu	37	1	174973839	174973839	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:174973839G>T	ENST00000367679.2	+	2	553	c.105G>T	c.(103-105)aaG>aaT	p.K35N	CACYBP_ENST00000367681.2_5'UTR|CACYBP_ENST00000406752.1_Missense_Mutation_p.K35N|CACYBP_ENST00000405362.1_5'UTR	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	35	Interaction with SIAH1.					beta-catenin destruction complex	protein homodimerization activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						AAAAATCCAAGATTGAGACAG	0.398000													8	113					5.18039e-06	5.90676e-06	0.038147	1	0
RHCE	6006	broad.mit.edu	37	1	25701839	25701839	+	Splice_Site	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:25701839C>A	ENST00000349320.3	-	10	1494		c.e10+1		RHCE_ENST00000425135.1_Splice_Site|RHCE_ENST00000346452.4_Splice_Site|RHCE_ENST00000455194.1_Splice_Site|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000413854.1_Intron|RHCE_ENST00000349438.4_Splice_Site|RHCE_ENST00000243186.6_Intron|RHCE_ENST00000294413.7_Splice_Site|RHCE_ENST00000374352.2_Splice_Site			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens							integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CTCACACTGACCTGTCAGGAG	0.567000													21	63					3.28513e-13	4.22782e-13	0.091800	1	0
PATZ1	23598	broad.mit.edu	37	22	31723239	31723239	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:31723239G>A	ENST00000266269.5	-	5	2331	c.1702C>T	c.(1702-1704)Ctc>Ttc	p.L568F	RP3-400N23.6_ENST00000440456.1_RNA|PATZ1_ENST00000405309.3_3'UTR|PATZ1_ENST00000351933.4_Missense_Mutation_p.L522F	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	568					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GCATCTGAGAGGTCACCATAG	0.507000													8	115					0	0	0.038147	0	0
KMT2C	58508	broad.mit.edu	37	7	151970855	151970855	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:151970855G>C	ENST00000355193.2	-	7	1165	c.947C>G	c.(946-948)aCc>aGc	p.T316S	KMT2C_ENST00000262189.6_Missense_Mutation_p.T316S					lysine (K)-specific methyltransferase 2C									p.T316S(2)									ATCCTGAAAGGTGCCGGCTCC	0.433000													4	128					0	0	0.009096	0	0
C3orf17	25871	broad.mit.edu	37	3	112727076	112727076	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:112727076G>C	ENST00000314400.5	-	8	1368	c.1177C>G	c.(1177-1179)Ctg>Gtg	p.L393V	C3orf17_ENST00000393857.2_Missense_Mutation_p.L257V|C3orf17_ENST00000383675.2_Missense_Mutation_p.L323V|C3orf17_ENST00000472762.1_5'UTR	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	393						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TTGTTACCCAGAAAAATGGCC	0.398000													8	123					0	0	0.038147	0	0
OSBPL9	114883	broad.mit.edu	37	1	52227619	52227619	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:52227619C>G	ENST00000371710.3	+	11	990	c.808C>G	c.(808-810)Cag>Gag	p.Q270E	OSBPL9_ENST00000447887.1_Missense_Mutation_p.Q262E|OSBPL9_ENST00000530544.1_Missense_Mutation_p.Q171E|OSBPL9_ENST00000531828.1_Missense_Mutation_p.Q87E|OSBPL9_ENST00000361556.5_Missense_Mutation_p.Q142E|OSBPL9_ENST00000371714.1_Missense_Mutation_p.Q239E|OSBPL9_ENST00000453295.1_Missense_Mutation_p.Q235E|OSBPL9_ENST00000435686.2_Missense_Mutation_p.Q87E|OSBPL9_ENST00000462759.1_Missense_Mutation_p.Q74E|OSBPL9_ENST00000486942.1_Missense_Mutation_p.Q74E|OSBPL9_ENST00000337809.4_Missense_Mutation_p.Q257E|OSBPL9_ENST00000428468.1_Missense_Mutation_p.Q252E	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	252					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						GGGACATCATCAGACTCCTAC	0.413000													17	88					0	0	0.049695	0	0
TP53BP1	7158	broad.mit.edu	37	15	43769857	43769857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:43769857G>A	ENST00000263801.3	-	8	1126	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.Q297*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.Q297*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.Q297*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	292					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGTGACTTCTGAATCTGCAGT	0.448000								Other conserved DNA damage response genes					7	93					0	0	0.038147	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209218816	209218816	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:209218816C>T	ENST00000264380.4	+	40	6197	c.6039C>T	c.(6037-6039)ctC>ctT	p.L2013L		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	2013	Catalytic.|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			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						CTAGCCACCTCATTATAGATT	0.403000													5	75					0	0	0.029380	0	0
RIMS2	9699	broad.mit.edu	37	8	105105732	105105732	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:105105732G>C	ENST00000436393.2	+	21	2996	c.2755G>C	c.(2755-2757)Gat>Cat	p.D919H	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	373					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAGAGGGGCAGATAATGTTTC	0.403000										HNSCC(12;0.0054)			4	125					0	0	0.014758	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763106	92763106	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:92763106C>T	ENST00000318238.4	-	5	3395	c.2179G>A	c.(2179-2181)Gag>Aag	p.E727K	SAMD9L_ENST00000437805.1_Missense_Mutation_p.E727K|SAMD9L_ENST00000411955.1_Missense_Mutation_p.E727K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	727										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTAGGAGACTCTGCCCAGCAG	0.368000													12	153					0	0	0.080935	0	0
DHX30	22907	broad.mit.edu	37	3	47883200	47883200	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:47883200G>C	ENST00000446256.2	+	9	1217	c.645G>C	c.(643-645)caG>caC	p.Q215H	DHX30_ENST00000457607.1_Missense_Mutation_p.Q282H|DHX30_ENST00000348968.4_Missense_Mutation_p.Q226H|DHX30_ENST00000445061.1_Missense_Mutation_p.Q254H	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	254						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGGTGATTCAGATTGCAACGT	0.522000													8	94					0	0	0.069234	0	0
PPM1E	22843	broad.mit.edu	37	17	57057364	57057364	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:57057364G>A	ENST00000308249.2	+	7	1369	c.1240G>A	c.(1240-1242)Ggg>Agg	p.G414R		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	423	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ATATATCTGTGGGGATGCAGA	0.488000													7	72					0	0	0.047766	0	0
AP2B1	163	broad.mit.edu	37	17	34044310	34044310	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:34044310C>A	ENST00000262325.7	+	20	3234	c.2681C>A	c.(2680-2682)aCt>aAt	p.T894N	AP2B1_ENST00000592545.1_Missense_Mutation_p.T870N|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000589344.1_Missense_Mutation_p.T908N|AP2B1_ENST00000538556.1_Missense_Mutation_p.T837N|AP2B1_ENST00000537622.2_Missense_Mutation_p.T908N|AP2B1_ENST00000312678.8_Missense_Mutation_p.T908N	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	894	Interaction with ARRB1.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTGAAGCTCACTAATGGCATT	0.463000													9	133					0.0581538	0.0599356	0.058154	1	0
KLK1	3816	broad.mit.edu	37	19	51325039	51325039	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:51325039G>T	ENST00000301420.2	-	2	170	c.135C>A	c.(133-135)ttC>ttA	p.F45L	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	45	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAAAGTGCTGAAATGGTACA	0.642000													5	39					0.014758	0.0153276	0.014758	1	0
ARHGAP35	2909	broad.mit.edu	37	19	47422325	47422325	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:47422325C>T	ENST00000404338.3	+	1	393	c.393C>T	c.(391-393)ctC>ctT	p.L131L		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	131					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										CTGAAAAACTCATGTACTTTT	0.473000													6	86					0	0	0.029380	0	0
FGFR1OP	11116	broad.mit.edu	37	6	167446089	167446089	+	Splice_Site	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:167446089A>T	ENST00000366847.3	+	11	1219		c.e11-1		FGFR1OP_ENST00000349556.4_Splice_Site	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner						G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		TAAACTTATCAGGAACTGGAG	0.259000			T	FGFR1	"""MPD, NHL"""								6	64					0	0	0.038147	0	0
ASMTL	8623	broad.mit.edu	37	X	1553973	1553973	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:1553973C>A	ENST00000534940.1	-	5	393	c.168G>T	c.(166-168)ttG>ttT	p.L56F	ASMTL_ENST00000381333.4_Missense_Mutation_p.L98F|ASMTL_ENST00000381317.3_Missense_Mutation_p.L114F|ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000416733.2_Missense_Mutation_p.L38F	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	114	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCTCCCACTCAACCTGTAAG	0.592000													9	25					0.00829132	0.00873392	0.069234	1	0
SYNRG	11276	broad.mit.edu	37	17	35945442	35945442	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:35945442C>T	ENST00000339208.6	-	5	608	c.468G>A	c.(466-468)gtG>gtA	p.V156V	SYNRG_ENST00000591288.1_Silent_p.V156V|SYNRG_ENST00000394378.2_Silent_p.V156V|SYNRG_ENST00000585472.1_Silent_p.V155V|SYNRG_ENST00000502449.2_Silent_p.V156V|SYNRG_ENST00000345615.4_Silent_p.V156V|SYNRG_ENST00000346661.4_Silent_p.V156V	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	156					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCTTGGGTTTCACACTGCTCA	0.438000													8	157					0	0	0.038147	0	0
AKAP6	9472	broad.mit.edu	37	14	33014719	33014719	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:33014719G>T	ENST00000280979.4	+	4	1030	c.860G>T	c.(859-861)aGt>aTt	p.S287I	AKAP6_ENST00000557272.1_Missense_Mutation_p.S287I|AKAP6_ENST00000557354.1_Missense_Mutation_p.S287I	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	287					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACCAATGGCAGTGAAGCAGTT	0.473000													29	91					7.26314e-15	9.45422e-15	0.034045	1	0
THADA	63892	broad.mit.edu	37	2	43520107	43520107	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:43520107C>T	ENST00000405006.4	-	32	5035	c.4684G>A	c.(4684-4686)Gaa>Aaa	p.E1562K	THADA_ENST00000415080.2_Missense_Mutation_p.E1243K|THADA_ENST00000405975.2_Missense_Mutation_p.E1562K|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1562							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AAGAGGGCTTCCAGTGTTAGT	0.547000													5	54					0	0	0.029380	0	0
ARAP2	116984	broad.mit.edu	37	4	36152616	36152616	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:36152616C>T	ENST00000303965.4	-	16	3292	c.2803G>A	c.(2803-2805)Gaa>Aaa	p.E935K		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	935	PH 3.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTATCATTTTCATAGTAACTC	0.338000													5	25					0	0	0.021553	0	0
HEATR4	399671	broad.mit.edu	37	14	73945483	73945483	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:73945483C>T	ENST00000553558.1	-	18	3230	c.2909G>A	c.(2908-2910)aGc>aAc	p.S970N	HEATR4_ENST00000566478.1_5'UTR|HEATR4_ENST00000334988.2_Missense_Mutation_p.S970N|HEATR4_ENST00000560393.1_Missense_Mutation_p.S923N	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		ACGAACTTTGCTTCGTGTGGT	0.498000													5	91					0	0	0.021553	0	0
ARMC4	55130	broad.mit.edu	37	10	28276388	28276388	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:28276388G>C	ENST00000305242.5	-	3	401	c.309C>G	c.(307-309)agC>agG	p.S103R		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	103							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GCTGCCCAAAGCTCCTAATTT	0.373000													4	55					0	0	0.009096	0	0
ANKFY1	51479	broad.mit.edu	37	17	4085565	4085565	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:4085565C>A	ENST00000341657.4	-	15	2067	c.2032G>T	c.(2032-2034)Gga>Tga	p.G678*	ANKFY1_ENST00000574367.1_Nonsense_Mutation_p.G679*|ANKFY1_ENST00000570535.1_Nonsense_Mutation_p.G720*|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	678						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ATGTCAGCTCCTCGGGTGCAT	0.577000													31	82					1.30293e-26	1.77727e-26	0.059317	1	0
GRIN2D	2906	broad.mit.edu	37	19	48925174	48925174	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:48925174G>C	ENST00000263269.3	+	10	2312	c.2224G>C	c.(2224-2226)Gag>Cag	p.E742Q		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	742						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GCCCCGCGTAGAGGAAGCGCT	0.632000													13	255					0	0	0.020292	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530649	5530649	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:5530649T>A	ENST00000311659.4	-	2	287	c.140A>T	c.(139-141)aAg>aTg	p.K47M	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	47	Ubiquitin-like.									NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATCTCTTCCTTCAGCTGCTG	0.507000													8	63					0	0	0.069234	0	0
GUSB	2990	broad.mit.edu	37	7	65425966	65425966	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:65425966C>G	ENST00000304895.4	-	12	2004	c.1874G>C	c.(1873-1875)aGa>aCa	p.R625T	GUSB_ENST00000421103.1_Missense_Mutation_p.R479T|GUSB_ENST00000345660.6_Missense_Mutation_p.R574T	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	625					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CTTCCAGTATCTCTCTCGCAA	0.448000													15	143					0	0	0.028581	0	0
ANKAR	150709	broad.mit.edu	37	2	190541598	190541598	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:190541598C>T	ENST00000520309.1	+	2	470	c.382C>T	c.(382-384)Cag>Tag	p.Q128*	ANKAR_ENST00000313581.4_Nonsense_Mutation_p.Q128*|ANKAR_ENST00000438402.2_Nonsense_Mutation_p.Q128*|ANKAR_ENST00000431575.2_Nonsense_Mutation_p.Q57*|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000281412.6_5'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	128						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TAATTATGATCAGAGTTCTTC	0.358000													10	93					0	0	0.069234	0	0
TRIML1	339976	broad.mit.edu	37	4	189068317	189068317	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:189068317G>T	ENST00000332517.3	+	6	1338	c.1198G>T	c.(1198-1200)Gtc>Ttc	p.V400F	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	400	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGGTCAGCACGTCAGAGAGCC	0.488000													13	18					4.93089e-13	6.33483e-13	0.020292	1	0
LINGO4	339398	broad.mit.edu	37	1	151774293	151774293	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:151774293G>T	ENST00000368820.3	-	2	1825	c.888C>A	c.(886-888)ctC>ctA	p.L296L		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	296						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGGGGGCTGAGCCTTCGGG	0.622000													11	55					0.000151284	0.000166222	0.105934	1	0
RBM17	84991	broad.mit.edu	37	10	6148146	6148146	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:6148146A>T	ENST00000446108.1	+	5	1094	c.450A>T	c.(448-450)agA>agT	p.R150S	RBM17_ENST00000379888.4_Missense_Mutation_p.R150S	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	150					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						TTGCAAGGAGACCAGATCCAG	0.373000													12	43					0	0	0.093190	0	0
ARGFX	503582	broad.mit.edu	37	3	121303853	121303853	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:121303853G>A	ENST00000334384.3	+	3	320	c.310G>A	c.(310-312)Gat>Aat	p.D104N		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	104						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		CATGTTCCCAGATAGAAATCT	0.493000													23	478					0	0	0.076483	0	0
PCM1	5108	broad.mit.edu	37	8	17849061	17849061	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:17849061G>A	ENST00000325083.8	+	28	4981	c.4542G>A	c.(4540-4542)gtG>gtA	p.V1514V	PCM1_ENST00000524226.1_Silent_p.V1460V|PCM1_ENST00000327578.8_Silent_p.V213V|PCM1_ENST00000519253.1_Silent_p.V1514V	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	1514	Interaction with HAP1.				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GTAACACCGTGATTCACTTAG	0.328000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								4	58					0	0	0.009096	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140726007	140726007	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:140726007G>A	ENST00000253812.6	+	1	2407	c.2407G>A	c.(2407-2409)Gat>Aat	p.D803N	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGAAAGGAGATTCCAACCT	0.378000													4	69					0	0	0.009096	0	0
GPM6A	2823	broad.mit.edu	37	4	176556165	176556165	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:176556165T>C	ENST00000280187.7	-	8	773	c.728A>G	c.(727-729)aAa>aGa	p.K243R	GPM6A_ENST00000393658.2_Missense_Mutation_p.K243R|GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000506894.1_Missense_Mutation_p.K232R|GPM6A_ENST00000515090.1_Missense_Mutation_p.K236R	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	243						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GCAGGCGTCTTTCACATAGGC	0.438000													3	56					0	0	0.004672	0	0
OR12D3	81797	broad.mit.edu	37	6	29343004	29343004	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:29343004G>A	ENST00000396806.3	-	1	64	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						AAAGGCTGCAGCTCCTGAACA	0.368000													30	73					0	0	0.054565	0	0
COL11A1	1301	broad.mit.edu	37	1	103471865	103471865	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:103471865G>A	ENST00000358392.2	-	16	2043	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	COL11A1_ENST00000353414.4_Nonsense_Mutation_p.R525*|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.R448*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.R564*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	564	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGACGCCTCGAGGGCCCTAT	0.398000													9	25					0	0	0.069234	0	0
LENG1	79165	broad.mit.edu	37	19	54660561	54660561	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:54660561C>A	ENST00000222224.3	-	3	701	c.515G>T	c.(514-516)gGt>gTt	p.G172V		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	172										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCTTCATCACCGCCGTGCTG	0.622000													20	47					7.41877e-09	9.04513e-09	0.062417	1	0
HTR7	3363	broad.mit.edu	37	10	92508816	92508816	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:92508816T>A	ENST00000371721.3	-	2	1317	c.1075A>T	c.(1075-1077)Agc>Tgc	p.S359C	HTR7_ENST00000336152.3_Missense_Mutation_p.S359C|HTR7_ENST00000277874.6_Missense_Mutation_p.S359C|HTR7_ENST00000371719.2_Missense_Mutation_p.S359C			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	359					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GGGATGCAGCTGCAGGAAGTG	0.542000													13	58					0	0	0.028581	0	0
CABP5	56344	broad.mit.edu	37	19	48533815	48533815	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:48533815C>T	ENST00000293255.2	-	6	651	c.521G>A	c.(520-522)tGa>tAa	p.*174*		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	0					signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		AGGACCTCCTCAGCGAGACAT	0.483000													9	162					0	0	0.093190	0	0
RBM19	9904	broad.mit.edu	37	12	114364967	114364967	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:114364967C>T	ENST00000545145.2	-	17	2214	c.2136G>A	c.(2134-2136)aaG>aaA	p.K712K	RBM19_ENST00000392561.3_Silent_p.K712K|RBM19_ENST00000261741.5_Silent_p.K712K	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	712					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					cctcttcCATCTTTGCTGAAG	0.433000													3	8					0	0	0.004672	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289327	98289327	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:98289327G>T	ENST00000322128.3	-	1	849	c.746C>A	c.(745-747)cCg>cAg	p.P249Q		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	249					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CCAGAAGCCCGGGATATTTTG	0.542000													10	105					4.68919e-08	5.62855e-08	0.069234	1	0
ANK1	286	broad.mit.edu	37	8	41525861	41525861	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:41525861G>T	ENST00000396942.1	-	39	5401	c.5318C>A	c.(5317-5319)gCc>gAc	p.A1773D	ANK1_ENST00000347528.4_Missense_Mutation_p.A1773D|ANK1_ENST00000352337.4_Missense_Mutation_p.A1773D|ANK1_ENST00000379758.2_Missense_Mutation_p.A1773D|ANK1_ENST00000289734.7_Missense_Mutation_p.A1773D|ANK1_ENST00000396945.1_Missense_Mutation_p.A1773D|ANK1_ENST00000265709.8_Missense_Mutation_p.A1814D			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1773	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTCCCTGTCGGCCTGGGAGCT	0.622000													23	113					4.72057e-08	5.66163e-08	0.091800	1	0
VWC2	375567	broad.mit.edu	37	7	49842351	49842351	+	Silent	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:49842351G>C	ENST00000340652.3	+	3	1297	c.741G>C	c.(739-741)gtG>gtC	p.V247V		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	247	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						ACGGTGAGGTGCTATGCACAG	0.537000													7	69					0	0	0.029380	0	0
LVRN	206338	broad.mit.edu	37	5	115351383	115351383	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:115351383G>A	ENST00000357872.4	+	18	2801	c.2677G>A	c.(2677-2679)Gag>Aag	p.E893K	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		893					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AAATATAATTGAGGTTGTGGC	0.373000													7	31					0	0	0.058154	0	0
FAT3	120114	broad.mit.edu	37	11	92085740	92085740	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:92085740G>A	ENST00000298047.6	+	1	479	c.462G>A	c.(460-462)ctG>ctA	p.L154L	FAT3_ENST00000409404.2_Silent_p.L154L|FAT3_ENST00000525166.1_Silent_p.L4L|FAT3_ENST00000541502.1_Silent_p.L154L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	154	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAATGATCTGAGACCTTTGT	0.403000										TCGA Ovarian(4;0.039)			10	58					0	0	0.058154	0	0
CCDC146	57639	broad.mit.edu	37	7	76916146	76916146	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:76916146T>A	ENST00000285871.4	+	16	2307	c.2180T>A	c.(2179-2181)cTg>cAg	p.L727Q	CCDC146_ENST00000431197.1_Missense_Mutation_p.L441Q|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	727										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ATTAAAGACCTGGAGAAACAG	0.363000													7	93					0	0	0.038147	0	0
COL19A1	1310	broad.mit.edu	37	6	70745820	70745820	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:70745820C>A	ENST00000322773.4	+	14	1261	c.1159C>A	c.(1159-1161)Cca>Aca	p.P387T		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	387	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCCAGGACCACCAGCCTTACC	0.318000													7	26					0.00448238	0.00473852	0.047766	1	0
FAM214A	56204	broad.mit.edu	37	15	52901619	52901619	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:52901619G>C	ENST00000261844.7	-	6	1644	c.1492C>G	c.(1492-1494)Cca>Gca	p.P498A	FAM214A_ENST00000546305.2_Missense_Mutation_p.P505A	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	498																	GATGCTGTTGGATCAATGTGC	0.428000													8	96					0	0	0.058154	0	0
C14orf37	145407	broad.mit.edu	37	14	58599924	58599924	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:58599924G>A	ENST00000267485.7	-	3	1699	c.1505C>T	c.(1504-1506)tCt>tTt	p.S502F	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	502						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						AGACACAGGAGAGGGGTCCTC	0.498000													12	65					0	0	0.080935	0	0
HEATR6	63897	broad.mit.edu	37	17	58144882	58144882	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:58144882G>A	ENST00000184956.6	-	8	1167	c.1151C>T	c.(1150-1152)tCa>tTa	p.S384L	HEATR6_ENST00000585976.1_Missense_Mutation_p.S384L	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	384	Poly-Ser.						binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			ACTGAAGGATGAGGAGACTCC	0.473000													6	55					0	0	0.021553	0	0
LINC01410	103352539	broad.mit.edu	37	9	66459813	66459813	+	RNA	SNP	G	G	A	rs10752517	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:66459813G>A	ENST00000424345.1	+	0	73																											tccaggatttgtccccagtgc	0.343000													5	26					0	0	0.014758	0	0
NEB	4703	broad.mit.edu	37	2	152531009	152531009	+	Silent	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:152531009C>G	ENST00000427231.2	-	36	4171	c.3969G>C	c.(3967-3969)tcG>tcC	p.S1323S	NEB_ENST00000409198.1_Silent_p.S1323S|NEB_ENST00000603639.1_Silent_p.S1323S|NEB_ENST00000397345.3_Silent_p.S1323S|NEB_ENST00000172853.10_Silent_p.S1323S|NEB_ENST00000604864.1_Silent_p.S1323S	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1323					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAATGTTTCTCGATGCCTTGG	0.398000													7	88					0	0	0.029380	0	0
ADAM22	53616	broad.mit.edu	37	7	87780627	87780627	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:87780627G>A	ENST00000398204.4	+	20	1996	c.1673G>A	c.(1672-1674)tGg>tAg	p.W558*	ADAM22_ENST00000315984.7_Nonsense_Mutation_p.W558*|ADAM22_ENST00000265727.7_Nonsense_Mutation_p.W558*|ADAM22_ENST00000398201.4_Nonsense_Mutation_p.W558*|ADAM22_ENST00000398209.3_Nonsense_Mutation_p.W558*	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	558	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AAATACATTTGGGGGCAAAGT	0.398000													4	60					0	0	0.014758	0	0
SVIL	6840	broad.mit.edu	37	10	29762821	29762821	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:29762821C>T	ENST00000375398.2	-	32	5924	c.5475G>A	c.(5473-5475)gaG>gaA	p.E1825E	SVIL_ENST00000375400.3_Silent_p.E1399E|SVIL_ENST00000535393.1_Silent_p.E739E|SVIL_ENST00000355867.4_Silent_p.E1825E|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000446807.1_RNA			O95425	SVIL_HUMAN	supervillin	1825					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACGTGCCCTTCTCACTCACGG	0.647000													9	24					0	0	0.047766	0	0
SEPT9	10801	broad.mit.edu	37	17	75398186	75398186	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:75398186C>G	ENST00000329047.8	+	2	880	c.68C>G	c.(67-69)tCc>tGc	p.S23C	SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000423034.2_Missense_Mutation_p.S34C|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000590294.1_Missense_Mutation_p.S23C|SEPT9_ENST00000427177.1_Missense_Mutation_p.S41C|SEPT9_ENST00000591198.1_Missense_Mutation_p.S22C|SEPT9_ENST00000449803.2_5'UTR	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	41					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			ACACCCAACTCCACCCCACCC	0.557000													10	54					0	0	0.069234	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185270164	185270164	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:185270164T>A	ENST00000367498.3	-	10	1682	c.1060A>T	c.(1060-1062)Atg>Ttg	p.M354L	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.M136L	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	354	Sufficient for AHR interaction and signaling.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						GCGTACTGCATAGGAGACATG	0.448000													37	52					0	0	0.092188	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36407683	36407683	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:36407683A>T	ENST00000405275.2	+	11	1139	c.896A>T	c.(895-897)aAt>aTt	p.N299I	CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.N326I|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.N74I|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.N139I			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	326					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CTTAGTTCCAATCGTGAGCGC	0.483000													19	129					0	0	0.043863	0	0
OR13C4	138804	broad.mit.edu	37	9	107289308	107289308	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:107289308G>A	ENST00000277216.3	-	1	182	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGCCCAGGAAGAAGTACATGG	0.418000													6	79					0	0	0.038147	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71360143	71360143	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:71360143G>C	ENST00000244230.2	+	2	557	c.205G>C	c.(205-207)Gaa>Caa	p.E69Q	MPHOSPH10_ENST00000468427.1_3'UTR|MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.E69Q	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	69			E -> A (in dbSNP:rs10199088).		RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						ACTTGTGATAGAAAATTTTGA	0.323000													4	28					0	0	0.014758	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33410885	33410885	+	Silent	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:33410885T>A	ENST00000418600.2	+	15	2657	c.2556T>A	c.(2554-2556)ggT>ggA	p.G852G	SYNGAP1_ENST00000428982.2_Silent_p.G793G|SYNGAP1_ENST00000293748.5_Silent_p.G852G|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	852					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						ATGGGCCTGGTGGCCGCCTCA	0.607000													24	84					0	0	0.037714	0	0
SPATC1	375686	broad.mit.edu	37	8	145094966	145094966	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:145094966C>T	ENST00000377470.3	+	2	470	c.368C>T	c.(367-369)aCg>aTg	p.T123M	SPATC1_ENST00000447830.2_Missense_Mutation_p.T123M	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	123										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCCTCAGCACGCTGCTGTCT	0.657000													5	17					0	0	0.021553	0	0
SEMA3D	223117	broad.mit.edu	37	7	84702318	84702318	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:84702318T>G	ENST00000284136.6	-	4	498	c.455A>C	c.(454-456)cAt>cCt	p.H152P	SEMA3D_ENST00000444867.1_Missense_Mutation_p.H152P	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	152	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ACATATTGGATGAAATGCTCC	0.328000													4	28					0	0	0.014758	0	0
MTMR8	55613	broad.mit.edu	37	X	63488886	63488886	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:63488886C>T	ENST00000374852.3	-	14	1713	c.1646G>A	c.(1645-1647)tGt>tAt	p.C549Y	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	549						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGAGCAGGTACAGATCTCTTC	0.433000													10	28					0	0	0.058154	0	0
GCNT4	51301	broad.mit.edu	37	5	74325615	74325615	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:74325615T>A	ENST00000322348.4	-	1	1109	c.248A>T	c.(247-249)gAa>gTa	p.E83V		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	83					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTTTCCAATTTCCAAAGGCTC	0.398000													12	103					0	0	0.024245	0	0
TPCN1	53373	broad.mit.edu	37	12	113716636	113716636	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:113716636C>G	ENST00000550785.1	+	15	1678	c.1509C>G	c.(1507-1509)ttC>ttG	p.F503L	TPCN1_ENST00000392569.4_Missense_Mutation_p.F363L|TPCN1_ENST00000335509.6_Missense_Mutation_p.F431L|TPCN1_ENST00000541517.1_Missense_Mutation_p.F503L	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	431						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCCTCATCTTCAAAGGTAAGT	0.557000													4	24					0	0	0.014758	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140794648	140794648	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:140794648C>A	ENST00000398610.2	+	1	1906	c.1906C>A	c.(1906-1908)Ctg>Atg	p.L636M	PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCGAGCCCTGCTGGACAG	0.706000													6	19					5.9392e-07	6.9762e-07	0.021553	1	0
TMEM71	137835	broad.mit.edu	37	8	133740077	133740077	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:133740077C>T	ENST00000356838.3	-	6	728	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	TMEM71_ENST00000523829.1_Missense_Mutation_p.E215K|TMEM71_ENST00000377901.4_Intron	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	215						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGGAAACGTTCAGAAGCTGTC	0.458000													7	109					0	0	0.038147	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918441	51918441	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:51918441C>T	ENST00000353836.5	-	7	1545	c.1324G>A	c.(1324-1326)Gtg>Atg	p.V442M	SIGLEC10_ENST00000442846.3_Missense_Mutation_p.V294M|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.V359M|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.V352M|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.V384M|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.V442M|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.V394M|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.V442M|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.V384M	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	442					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TCACAGTGCACGGAGAGGCTG	0.662000													36	48					0	0	0.048971	0	0
GCNT2	2651	broad.mit.edu	37	6	10556885	10556885	+	Missense_Mutation	SNP	A	A	T	rs55908716		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:10556885A>T	ENST00000316170.3	+	1	646	c.229A>T	c.(229-231)Acc>Tcc	p.T77S	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	79						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GGAATACTTGACCCAGAGCCA	0.408000													23	298					0	0	0.076483	0	0
KRT40	125115	broad.mit.edu	37	17	39139301	39139301	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:39139301G>C	ENST00000377755.4	-	2	561	c.527C>G	c.(526-528)tCa>tGa	p.S176*	KRT40_ENST00000398486.2_Nonsense_Mutation_p.S176*			Q6A162	K1C40_HUMAN	keratin 40	176	Coil 1B.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				AACTTACTTTGACTTAAAGTC	0.373000													5	135					0	0	0.021553	0	0
CNGA3	1261	broad.mit.edu	37	2	99013258	99013258	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:99013258G>T	ENST00000393504.1	+	8	2042	c.1625G>T	c.(1624-1626)aGc>aTc	p.S542I	CNGA3_ENST00000436404.2_Missense_Mutation_p.S524I|CNGA3_ENST00000409937.1_Missense_Mutation_p.S546I|CNGA3_ENST00000272602.2_Missense_Mutation_p.S542I	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	542					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GTGGTCCTCAGCGATGGCAGC	0.562000													30	68					1.36615e-20	1.81989e-20	0.054565	1	0
CD274	29126	broad.mit.edu	37	9	5457304	5457304	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:5457304C>A	ENST00000381577.3	+	3	364	c.278C>A	c.(277-279)tCc>tAc	p.S93Y	CD274_ENST00000498261.1_3'UTR|CD274_ENST00000381573.4_Intron	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	93	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		GACCAGCTCTCCCTGGGAAAT	0.498000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								4	35					0.000602214	0.000650567	0.014758	1	0
NALCN	259232	broad.mit.edu	37	13	101721105	101721105	+	Silent	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:101721105A>T	ENST00000251127.6	-	38	4353	c.4272T>A	c.(4270-4272)ctT>ctA	p.L1424L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1424						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGAAATACATAAGTGCCCCAG	0.398000													6	33					0	0	0.029380	0	0
KCNB2	9312	broad.mit.edu	37	8	73848655	73848655	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:73848655T>G	ENST00000523207.1	+	3	1653	c.1065T>G	c.(1063-1065)ttT>ttG	p.F355L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	355					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGGTATTTTTTGCTGAGAAGG	0.453000													90	88					0	0	0.048971	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457161	110457161	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:110457161C>G	ENST00000378402.5	+	38	5167	c.5063C>G	c.(5062-5064)tCt>tGt	p.S1688C		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1688	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			GCCGTTTCTTCTGCAGGTGTA	0.433000										HNSCC(38;0.096)			9	164					0	0	0.058154	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709560	31709560	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr21:31709560G>A	ENST00000382835.2	-	1	452	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	143						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						GAAGTCTTGGGTGGGCAACTG	0.488000													19	147					0	0	0.069288	0	0
MYH8	4626	broad.mit.edu	37	17	10322308	10322308	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:10322308G>A	ENST00000403437.2	-	4	344	c.250C>T	c.(250-252)Cct>Tct	p.P84S	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	84	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TATTTCGGAGGGTTCATAGGG	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				9	48					0	0	0.047766	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19496260	19496260	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:19496260G>A	ENST00000538714.1	+	19	2423	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K	PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E749K|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E749K|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E807K|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E668K|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E507K|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E680K|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.E749K|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E852K	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	749							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CTGATAGACGGAATCAGCAGG	0.328000													4	22					0	0	0.014758	0	0
LINGO1	84894	broad.mit.edu	37	15	77907523	77907523	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:77907523C>A	ENST00000355300.6	-	2	900	c.726G>T	c.(724-726)aaG>aaT	p.K242N	LINGO1_ENST00000561030.1_Missense_Mutation_p.K236N	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	242					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TCTCCAAGACCTTGAGTCGGT	0.582000													27	52					3.99451e-17	5.24102e-17	0.041601	1	0
SPSB2	84727	broad.mit.edu	37	12	6981479	6981479	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:6981479C>T	ENST00000519357.1	-	2	773	c.587G>A	c.(586-588)gGc>gAc	p.G196D	SPSB2_ENST00000524270.1_Missense_Mutation_p.G196D|SPSB2_ENST00000523102.1_Missense_Mutation_p.G196D			Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	196	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						GAGGGTCCTGCCCTTCAGTCC	0.647000											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	51					0	0	0.093190	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31126081	31126081	+	Silent	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:31126081C>G	ENST00000304166.4	+	10	1042	c.753C>G	c.(751-753)ctC>ctG	p.L251L	ADCYAP1R1_ENST00000409489.1_Silent_p.L251L|ADCYAP1R1_ENST00000409363.1_Silent_p.L230L|ADCYAP1R1_ENST00000396211.2_Silent_p.L251L	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	251					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GCCTGTACCTCTTCACTCTGC	0.527000													5	130					0	0	0.021553	0	0
GRIK1	2897	broad.mit.edu	37	21	30961209	30961209	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr21:30961209G>T	ENST00000399914.1	-	10	1995	c.1474C>A	c.(1474-1476)Cag>Aag	p.Q492K	GRIK1_ENST00000327783.4_Missense_Mutation_p.Q507K|GRIK1_ENST00000309434.7_Missense_Mutation_p.Q509K|GRIK1_ENST00000399907.1_Missense_Mutation_p.Q507K|GRIK1_ENST00000399913.1_Missense_Mutation_p.Q507K|GRIK1_ENST00000535441.1_Missense_Mutation_p.Q509K|GRIK1_ENST00000389125.3_Missense_Mutation_p.Q492K|GRIK1_ENST00000389124.2_Missense_Mutation_p.Q507K|GRIK1_ENST00000399909.1_Missense_Mutation_p.Q492K			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	507					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TTGTCATTCTGGGCCCCATAT	0.373000													7	51					0.00307968	0.00326733	0.038147	1	0
OR13G1	441933	broad.mit.edu	37	1	247835855	247835855	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:247835855C>A	ENST00000359688.2	-	1	510	c.489G>T	c.(487-489)ttG>ttT	p.L163F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CACAGAAAGTCAACCTCATGA	0.473000													11	74					0.000673444	0.000726456	0.069234	1	0
CHD9	80205	broad.mit.edu	37	16	53289614	53289614	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:53289614G>T	ENST00000566029.1	+	19	4341	c.4132G>T	c.(4132-4134)Gat>Tat	p.D1378Y	CHD9_ENST00000447540.1_Missense_Mutation_p.D1378Y|CHD9_ENST00000564845.1_Missense_Mutation_p.D1378Y|CHD9_ENST00000398510.3_Missense_Mutation_p.D1378Y			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1378					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CTGCGAAGAGGATATCGATCA	0.388000													20	154					1.33834e-09	1.64924e-09	0.043863	1	0
C4orf33	132321	broad.mit.edu	37	4	130030648	130030648	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:130030648C>G	ENST00000281146.4	+	5	1036	c.315C>G	c.(313-315)ttC>ttG	p.F105L	C4orf33_ENST00000502887.1_Missense_Mutation_p.F105L|C4orf33_ENST00000425929.1_Missense_Mutation_p.F105L	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	105										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						CTTTATCGTTCAGAATGTCCA	0.348000													4	59					0	0	0.009096	0	0
TMOD1	7111	broad.mit.edu	37	9	100308482	100308482	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:100308482G>C	ENST00000395211.2	+	3	272	c.136G>C	c.(136-138)Gca>Cca	p.A46P	TMOD1_ENST00000259365.3_Missense_Mutation_p.A46P	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN	tropomodulin 1	46	Tropomyosin-binding (Potential).				muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		ACTGCTGCCTGCAGGCCTGAG	0.527000													37	48					0	0	0.074837	0	0
SAMD7	344658	broad.mit.edu	37	3	169644379	169644379	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:169644379G>T	ENST00000428432.2	+	6	718	c.329G>T	c.(328-330)aGa>aTa	p.R110I	SAMD7_ENST00000335556.3_Missense_Mutation_p.R110I	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	110										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CAGCAAAGGAGAATGGAAAAA	0.423000													20	55					1.1804e-14	1.53379e-14	0.091800	1	0
TBX15	6913	broad.mit.edu	37	1	119467273	119467273	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:119467273C>A	ENST00000369429.3	-	4	698	c.689G>T	c.(688-690)gGa>gTa	p.G230V	TBX15_ENST00000207157.3_Missense_Mutation_p.G124V			Q96SF7	TBX15_HUMAN	T-box 15	230						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		ACTCACATGTCCTTGATCATC	0.423000													40	138					2.59497e-14	3.36596e-14	0.098360	1	0
TAOK2	9344	broad.mit.edu	37	16	29994517	29994517	+	Nonsense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:29994517C>G	ENST00000308893.4	+	12	2167	c.1124C>G	c.(1123-1125)tCa>tGa	p.S375*	TAOK2_ENST00000279394.3_Nonsense_Mutation_p.S375*|TAOK2_ENST00000416441.2_Nonsense_Mutation_p.S202*|TAOK2_ENST00000543033.1_Nonsense_Mutation_p.S375*	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	375					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCAGATGCCTCAGACAACgag	0.622000													10	83					0	0	0.024245	0	0
WDR46	9277	broad.mit.edu	37	6	33256709	33256709	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:33256709G>C	ENST00000374617.4	-	2	507	c.151C>G	c.(151-153)Cgg>Ggg	p.R51G	WDR46_ENST00000477718.1_5'UTR	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	51										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CGGAGCTCCCGATTCTTCTTG	0.532000													3	49					0	0	0.009096	0	0
NMU	10874	broad.mit.edu	37	4	56471449	56471449	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:56471449C>G	ENST00000264218.3	-	7	533	c.428G>C	c.(427-429)aGa>aCa	p.R143T	NMU_ENST00000507338.1_Intron|NMU_ENST00000515325.1_5'UTR|NMU_ENST00000505262.1_Missense_Mutation_p.R116T|NMU_ENST00000511469.1_Missense_Mutation_p.R127T	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	143					neuropeptide signaling pathway	extracellular region				lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		TACGTCCACTCTGAATCTCTT	0.483000													5	49					0	0	0.021553	0	0
SAMM50	25813	broad.mit.edu	37	22	44371988	44371988	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:44371988A>T	ENST00000350028.4	+	8	859	c.702A>T	c.(700-702)gaA>gaT	p.E234D	SAMM50_ENST00000396202.3_Missense_Mutation_p.E24D	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	234					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TATGGCGAGAACTGGGCTGCC	0.483000													4	52					0	0	0.009096	0	0
DNAH3	55567	broad.mit.edu	37	16	21042461	21042461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:21042461G>T	ENST00000261383.3	-	37	5344	c.5345C>A	c.(5344-5346)tCa>tAa	p.S1782*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.S1782*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1782	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCAGAGAGTGAAGACGCTTG	0.463000													15	61					5.01169e-05	5.54772e-05	0.033300	1	0
MAGEA11	4110	broad.mit.edu	37	X	148797987	148797987	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:148797987G>T	ENST00000355220.5	+	5	943	c.841G>T	c.(841-843)Gaa>Taa	p.E281*	MAGEA11_ENST00000333104.4_Nonsense_Mutation_p.E252*	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	281	MAGE.					cytoplasm|nucleus	protein binding	p.E281K(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGATGTGAAGGAAGTGGACCC	0.473000													17	40					9.16793e-09	1.11309e-08	0.033300	1	0
HSDL2	84263	broad.mit.edu	37	9	115216390	115216390	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:115216390C>T	ENST00000398805.3	+	9	1190	c.963C>T	c.(961-963)ctC>ctT	p.L321L	HSDL2_ENST00000262542.7_Silent_p.L201L|HSDL2_ENST00000539114.1_Silent_p.L116L|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000398803.1_Silent_p.L248L	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	321	SCP2.					peroxisome	oxidoreductase activity|sterol binding			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						AGGACTCTCTCAGTGATGATG	0.408000													11	127					0	0	0.080935	0	0
ZNF442	79973	broad.mit.edu	37	19	12460637	12460637	+	Silent	SNP	G	G	T	rs147649018		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:12460637G>T	ENST00000242804.4	-	6	2344	c.1762C>A	c.(1762-1764)Cga>Aga	p.R588R	ZNF442_ENST00000438182.1_Silent_p.R519R	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCATGTCCTCGAAGGAAACGA	0.423000													8	78					0.00448238	0.00473852	0.047766	1	0
RSPRY1	89970	broad.mit.edu	37	16	57272859	57272859	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:57272859G>C	ENST00000537866.1	+	15	2576	c.1703G>C	c.(1702-1704)aGa>aCa	p.R568T	RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Missense_Mutation_p.R568T			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	568						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						ATAGTATCTAGAATCAGACAG	0.398000													3	22					0	0	0.004672	0	0
SRCIN1	80725	broad.mit.edu	37	17	36709061	36709061	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:36709061C>T	ENST00000264659.7	-	12	2456	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Silent_p.Q778Q	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	616					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						ACACGTCTCTCTGGATCTTCT	0.612000													6	54					0	0	0.058154	0	0
MYH15	22989	broad.mit.edu	37	3	108183535	108183535	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:108183535C>G	ENST00000273353.3	-	16	1797	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	581	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTCTTCTTATCAGGCTTGGGC	0.423000													53	310					0	0	0.048971	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118236245	118236245	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:118236245C>T	ENST00000369230.3	+	11	1400	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	418	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GTGTTCAGTTCATCTGGAAAA	0.333000													37	113					0	0	0.086207	0	0
NDST1	3340	broad.mit.edu	37	5	149907591	149907591	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:149907591G>C	ENST00000261797.6	+	3	1241	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	NDST1_ENST00000523767.1_Missense_Mutation_p.E247Q	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	247	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGCTCGTCTGAGTCCATCCC	0.647000													4	30					0	0	0.009096	0	0
HEG1	57493	broad.mit.edu	37	3	124731846	124731846	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:124731846G>A	ENST00000311127.4	-	6	2644	c.2577C>T	c.(2575-2577)acC>acT	p.T859T		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	859						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TGCTTGACAGGGTGCCAGGAG	0.493000													33	144					0	0	0.098360	0	0
FAM92A1	137392	broad.mit.edu	37	8	94717157	94717157	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:94717157C>T	ENST00000518322.1	+	4	492	c.351C>T	c.(349-351)ctC>ctT	p.L117L	FAM92A1_ENST00000423990.2_Silent_p.L117L|FAM92A1_ENST00000522324.1_Silent_p.L117L	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	117										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AAGCAACACTCACAGCAAGGA	0.353000													3	48					0	0	0.004672	0	0
GRM8	2918	broad.mit.edu	37	7	126086315	126086315	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:126086315T>A	ENST00000339582.2	-	10	3350	c.2542A>T	c.(2542-2544)Aat>Tat	p.N848Y	GRM8_ENST00000444921.2_Missense_Mutation_p.N848Y|GRM8_ENST00000358373.3_Missense_Mutation_p.N848Y			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	848					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTTTGAACATTCTGTTCTGGA	0.423000										HNSCC(24;0.065)			8	86					0	0	0.069234	0	0
KIAA1109	84162	broad.mit.edu	37	4	123192444	123192444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:123192444C>T	ENST00000264501.4	+	47	8138	c.7765C>T	c.(7765-7767)Cag>Tag	p.Q2589*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.Q2589*|KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.Q2589*			Q2LD37	K1109_HUMAN	KIAA1109	2589					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAAAGCAACTCAGACTGATAT	0.398000													12	90					0	0	0.080935	0	0
PRELID2	153768	broad.mit.edu	37	5	145175992	145175992	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:145175992G>C	ENST00000511435.1	-	5	539	c.487C>G	c.(487-489)Ctg>Gtg	p.L163V	PRELID2_ENST00000334744.4_Intron|PRELID2_ENST00000510594.1_Intron|PRELID2_ENST00000505416.1_Intron|PRELID2_ENST00000358004.2_Intron|PRELID2_ENST00000394450.2_Intron			Q8N945	PRLD2_HUMAN	PRELI domain containing 2	0	PRELI/MSF1.									endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTCAAAGCAGAAATATGGTT	0.358000													10	165					0	0	0.080935	0	0
RARA	5914	broad.mit.edu	37	17	38487490	38487490	+	Missense_Mutation	SNP	C	C	T	rs150291626		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:38487490C>T	ENST00000254066.5	+	2	475	c.20C>T	c.(19-21)tCc>tTc	p.S7F	RARA_ENST00000394089.2_Missense_Mutation_p.S7F|RARA_ENST00000425707.3_Missense_Mutation_p.S7F	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	7	Modulating.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AACAGCAGCTCCTGCCCGACA	0.677000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								3	53					0	0	0.009096	0	0
PHF19	26147	broad.mit.edu	37	9	123623386	123623386	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:123623386C>T	ENST00000373896.3	-	13	1537	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	PHF19_ENST00000419155.1_Missense_Mutation_p.E220K|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTTGAATTTCATCCAGCGTG	0.502000													5	52					0	0	0.014758	0	0
LINC00854	100874261	broad.mit.edu	37	17	41381938	41381938	+	RNA	SNP	C	C	G	rs4986161		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:41381938C>G	ENST00000433702.2	-	0	14					NR_047479.1																						aagagctgatcttatgcaggg	0.552000													4	65					0	0	0.029380	0	0
ZNF781	163115	broad.mit.edu	37	19	38160582	38160582	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:38160582G>C	ENST00000358582.4	-	4	1216	c.468C>G	c.(466-468)atC>atG	p.I156M	ZNF781_ENST00000590008.1_Missense_Mutation_p.I156M|ZFP30_ENST00000586732.1_Intron	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						AGAGTTGAGCGATTGTTAAAT	0.388000													3	63					0	0	0.004672	0	0
WISP1	8840	broad.mit.edu	37	8	134225375	134225375	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:134225375G>C	ENST00000250160.6	+	2	444	c.338G>C	c.(337-339)gGa>gCa	p.G113A	WISP1_ENST00000220856.6_Missense_Mutation_p.G113A|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000517423.1_Missense_Mutation_p.G113A|WISP1_ENST00000377863.2_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	113	IGFBP N-terminal.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TACGCAATAGGAGTGTGTGCA	0.632000													7	69					0	0	0.058154	0	0
NRG1	3084	broad.mit.edu	37	8	32505526	32505526	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:32505526G>T	ENST00000520502.2	+	1	290	c.290G>T	c.(289-291)tGg>tTg	p.W97L	NRG1_ENST00000520407.1_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000356819.4_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	0	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GGCCTCAAGTGGGTATTTGTG	0.547000													24	105					3.28513e-13	4.22782e-13	0.091800	1	0
ADAM21	8747	broad.mit.edu	37	14	70926203	70926203	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:70926203C>A	ENST00000603540.1	+	2	2245	c.1987C>A	c.(1987-1989)Cag>Aag	p.Q663K	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.Q663K	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	663	EGF-like.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ACCCTACTGCCAGCACAGAGG	0.502000													18	47					3.51602e-12	4.48595e-12	0.049695	1	0
CCDC88A	55704	broad.mit.edu	37	2	55527035	55527035	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:55527035C>T	ENST00000436346.1	-	29	5606	c.4765G>A	c.(4765-4767)Gat>Aat	p.D1589N	CCDC88A_ENST00000413716.2_Missense_Mutation_p.D1588N|CCDC88A_ENST00000422883.2_Intron|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D1561N|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D1588N	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1589					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CTGCCACTATCAAGGCTGGCT	0.373000													6	110					0	0	0.038147	0	0
MED7	9443	broad.mit.edu	37	5	156565908	156565908	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:156565908C>G	ENST00000286317.5	-	2	916	c.535G>C	c.(535-537)Gaa>Caa	p.E179Q	MED7_ENST00000420343.1_Missense_Mutation_p.E179Q	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	179					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATTCCTGCTTCTGAATGAGGC	0.398000													13	76					0	0	0.020292	0	0
CST8	10047	broad.mit.edu	37	20	23473696	23473696	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:23473696C>A	ENST00000246012.1	+	3	690	c.333C>A	c.(331-333)tcC>tcA	p.S111S		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	111						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AAGAAAACTCCAAGCTGAAAA	0.463000													84	73					4.41824e-40	6.1399e-40	0.048971	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33637777	33637777	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:33637777G>C	ENST00000504830.1	-	12	2128	c.1793C>G	c.(1792-1794)tCa>tGa	p.S598*	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.S598*|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	598	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGGTGCCTCTGAGCGACAGGG	0.463000										HNSCC(64;0.19)			14	99					0	0	0.024245	0	0
SHISA9	729993	broad.mit.edu	37	16	13329009	13329009	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:13329009C>A	ENST00000558583.1	+	5	1463	c.1141C>A	c.(1141-1143)Cac>Aac	p.H381N	SHISA9_ENST00000424107.3_Missense_Mutation_p.H340N	NM_001145204.2	NP_001138676.2	B4DS77	SHSA9_HUMAN	shisa family member 9	340					regulation of short-term neuronal synaptic plasticity	cell junction|dendritic spine membrane|ionotropic glutamate receptor complex|synapse				breast(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						CAGCCCTGAGCACGGTCCTGC	0.622000													9	17					1.12685e-05	1.27308e-05	0.047766	1	0
IL26	55801	broad.mit.edu	37	12	68619522	68619522	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:68619522G>A	ENST00000229134.4	-	1	79	c.15C>T	c.(13-15)ttC>ttT	p.F5F	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	5					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		ACCTCAAAATGAAATTCACCA	0.463000													11	266					0	0	0.080935	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209142412	209142412	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:209142412G>T	ENST00000264380.4	+	5	751	c.593G>T	c.(592-594)gGa>gTa	p.G198V	PIKFYVE_ENST00000407449.1_Missense_Mutation_p.G198V|PIKFYVE_ENST00000392202.3_Intron|PIKFYVE_ENST00000308862.6_Intron	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	198					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			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						GAAATCCCTGGAAAATTTATG	0.368000													6	169					8.12818e-05	8.95068e-05	0.029380	1	0
TRIM15	89870	broad.mit.edu	37	6	30131761	30131761	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:30131761C>T	ENST00000376694.4	+	1	769	c.300C>T	c.(298-300)ttC>ttT	p.F100F	TRIM15_ENST00000376688.1_Silent_p.F100F	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	100					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						ATGCCGAGTTCCTCTGTGTGT	0.607000													6	75					0	0	0.029380	0	0
ZNF23	7571	broad.mit.edu	37	16	71482163	71482163	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:71482163T>A	ENST00000393539.2	-	6	2578	c.1765A>T	c.(1765-1767)Aga>Tga	p.R589*	RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000564528.1_Nonsense_Mutation_p.R531*|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000357254.4_Nonsense_Mutation_p.R589*|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000417828.1_Nonsense_Mutation_p.R589*|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000428724.2_Nonsense_Mutation_p.R531*|ZNF23_ENST00000497160.1_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TCCACACATCTGAAGGGTTTC	0.448000													52	97					0	0	0.048971	0	0
FAM131A	131408	broad.mit.edu	37	3	184060006	184060006	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:184060006G>A	ENST00000310585.4	+	1	1749	c.385G>A	c.(385-387)Gag>Aag	p.E129K	FAM131A_ENST00000340957.5_Missense_Mutation_p.E75K|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000383847.2_Missense_Mutation_p.E160K|FAM131A_ENST00000418281.1_Missense_Mutation_p.E37K|FAM131A_ENST00000453072.1_Missense_Mutation_p.E75K|FAM131A_ENST00000450976.1_Missense_Mutation_p.E75K			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	129						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGACCTCAGCGAGGGCGAACA	0.527000													6	198					0	0	0.047766	0	0
BICD1	636	broad.mit.edu	37	12	32458939	32458939	+	Silent	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:32458939G>C	ENST00000548411.1	+	4	1069	c.888G>C	c.(886-888)ctG>ctC	p.L296L	BICD1_ENST00000281474.5_Silent_p.L296L	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	296					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TTGTGAAACTGAATGGAGACT	0.438000													4	45					0	0	0.009096	0	0
AZIN1	51582	broad.mit.edu	37	8	103851074	103851074	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:103851074T>C	ENST00000337198.5	-	5	1510	c.347A>G	c.(346-348)cAa>cGa	p.Q116R	AZIN1_ENST00000347770.4_Missense_Mutation_p.Q116R|AZIN1_ENST00000522311.1_5'UTR	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	116					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			CTGAGACACTTGCTTGCAAGG	0.368000													14	59					0	0	0.028581	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996719	19996719	+	Silent	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr18:19996719A>T	ENST00000391403.2	-	1	1159	c.1056T>A	c.(1054-1056)ctT>ctA	p.L352L		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	352						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TCATTACTTTAAGTTTCTGCT	0.323000													14	89					0	0	0.105934	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004649	52004649	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:52004649C>G	ENST00000291707.3	-	1	394	c.339G>C	c.(337-339)gaG>gaC	p.E113D		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	113	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTGCATCACTCTCTCTGGTGT	0.502000													22	132					0	0	0.076483	0	0
EPHA5	2044	broad.mit.edu	37	4	66201708	66201708	+	Silent	SNP	A	A	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:66201708A>G	ENST00000273854.3	-	16	3394	c.2794T>C	c.(2794-2796)Ttg>Ctg	p.L932L	EPHA5_ENST00000511294.1_Silent_p.L933L|EPHA5_ENST00000354839.4_Silent_p.L910L|EPHA5_ENST00000432638.2_Silent_p.L769L	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	932	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGCTTGTCCAACATGTTGACT	0.463000										TSP Lung(17;0.13)			3	71					0	0	0.004672	0	0
ZPLD1	131368	broad.mit.edu	37	3	102196379	102196379	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:102196379C>A	ENST00000306176.1	+	11	1313	c.1213C>A	c.(1213-1215)Ctt>Att	p.L405I	ZPLD1_ENST00000466937.1_Missense_Mutation_p.L389I|ZPLD1_ENST00000491959.1_Missense_Mutation_p.L389I	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	389						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CTTTTCTCTTCTTCTGTGCTC	0.483000													19	344					1.96292e-10	2.45158e-10	0.055883	1	0
EPB41L1	2036	broad.mit.edu	37	20	34807691	34807691	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:34807691G>A	ENST00000338074.2	+	19	2525	c.2364G>A	c.(2362-2364)ggG>ggA	p.G788G	EPB41L1_ENST00000373946.3_Silent_p.G608G|EPB41L1_ENST00000202028.5_Silent_p.G686G|EPB41L1_ENST00000373941.1_Silent_p.G787G|EPB41L1_ENST00000373950.2_Silent_p.G679G|EPB41L1_ENST00000441639.1_Silent_p.G686G	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	788	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGATCATCGGGAAAGATGTCC	0.607000													15	168					0	0	0.043863	0	0
SCN10A	6336	broad.mit.edu	37	3	38770320	38770320	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:38770320C>T	ENST00000449082.2	-	15	2352	c.2353G>A	c.(2353-2355)Ggg>Agg	p.G785R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	785					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCCAGTGCCCCCACTGAGTTT	0.512000													9	107					0	0	0.069234	0	0
ATP1B4	23439	broad.mit.edu	37	X	119513326	119513326	+	Splice_Site	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:119513326A>T	ENST00000218008.3	+	8	969		c.e8-1		ATP1B4_ENST00000539306.1_Splice_Site|ATP1B4_ENST00000361319.3_Splice_Site	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide						ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TTCTACCTGCAGGTTAACTAC	0.483000													21	35					0	0	0.069288	0	0
TEX37	200523	broad.mit.edu	37	2	88825151	88825151	+	Splice_Site	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:88825151A>T	ENST00000303254.3	+	2	132		c.e2-1			NM_152670.2	NP_689883.1			testis expressed 37																		GTCTGTGTCTAGGTCGTTTGC	0.542000													46	136					0	0	0.048971	0	0
PDE7B	27115	broad.mit.edu	37	6	136468561	136468561	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:136468561A>G	ENST00000308191.6	+	4	542	c.239A>G	c.(238-240)cAt>cGt	p.H80R	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	80					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	AGATACTTCCATGCATCAAGG	0.453000													11	72					0	0	0.093190	0	0
GON4L	54856	broad.mit.edu	37	1	155721781	155721781	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:155721781G>C	ENST00000437809.1	-	30	6562	c.6440C>G	c.(6439-6441)tCc>tGc	p.S2147C	GON4L_ENST00000368331.1_Missense_Mutation_p.S2148C|GON4L_ENST00000271883.5_Missense_Mutation_p.S2147C			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	2148					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTCCCCAGTGGAGCTGACCTT	0.542000													22	123					0	0	0.083992	0	0
JPH1	56704	broad.mit.edu	37	8	75227268	75227268	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:75227268C>T	ENST00000342232.4	-	2	1007	c.967G>A	c.(967-969)Gac>Aac	p.D323N		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	323					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTGGAGCCGTCAGGAAACACG	0.468000													11	49					0	0	0.093190	0	0
OR10R2	343406	broad.mit.edu	37	1	158450006	158450006	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:158450006C>A	ENST00000368152.1	+	1	339	c.339C>A	c.(337-339)tcC>tcA	p.S113S	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GGACAATCTCCTTCAACTGTT	0.438000													8	366					5.4927e-09	6.7128e-09	0.047766	1	0
RCAN2	10231	broad.mit.edu	37	6	46214582	46214582	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:46214582C>A	ENST00000371374.1	-	4	665	c.474G>T	c.(472-474)tcG>tcT	p.S158S	RCAN2_ENST00000306764.7_Silent_p.S158S|RCAN2_ENST00000405162.1_Silent_p.S158S|RCAN2_ENST00000330430.6_Silent_p.S112S	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	112					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AGGAAGGGGGCGAGATGAGAA	0.532000													4	48					0.014758	0.0153276	0.014758	1	0
GPR112	139378	broad.mit.edu	37	X	135431650	135431650	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:135431650C>G	ENST00000394143.1	+	6	6076	c.5785C>G	c.(5785-5787)Cta>Gta	p.L1929V	GPR112_ENST00000412101.1_Missense_Mutation_p.L1724V|GPR112_ENST00000394141.1_Missense_Mutation_p.L1724V|GPR112_ENST00000370652.1_Missense_Mutation_p.L1929V|GPR112_ENST00000287534.4_Missense_Mutation_p.L1866V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1929					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCAGACTGGTCTAGTATCTAA	0.413000													26	63					0	0	0.108266	0	0
SSFA2	6744	broad.mit.edu	37	2	182763764	182763764	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:182763764G>A	ENST00000431877.2	+	6	607	c.428G>A	c.(427-429)aGa>aAa	p.R143K	SSFA2_ENST00000428267.2_5'UTR|SSFA2_ENST00000320370.7_Missense_Mutation_p.R143K|SSFA2_ENST00000409001.1_Missense_Mutation_p.R143K	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	143						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GCCAAAGAGAGAAGATTACAG	0.308000													5	81					0	0	0.021553	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73022472	73022472	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:73022472G>A	ENST00000263674.3	+	1	3139	c.2789G>A	c.(2788-2790)aGt>aAt	p.S930N		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	930					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCTCGGAGTAGTCACCAGGAG	0.642000													13	11					0	0	0.028581	0	0
MC3R	4159	broad.mit.edu	37	20	54824869	54824869	+	Nonstop_Mutation	SNP	T	T	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:54824869T>C	ENST00000243911.2	+	1	1082	c.970T>C	c.(970-972)Tag>Cag	p.*324Q		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	0					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GAACTTGGGATAGGATGCAGG	0.453000													12	178					0	0	0.105934	0	0
FRMPD3	84443	broad.mit.edu	37	X	106808167	106808167	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:106808167C>T	ENST00000276185.4	+	13	1266	c.1266C>T	c.(1264-1266)atC>atT	p.I422I				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	422	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GTCATGGCATCAGCCATGTTA	0.582000													21	57					0	0	0.076483	0	0
CABP1	9478	broad.mit.edu	37	12	121093817	121093817	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:121093817C>T	ENST00000453000.1	+	1	716	c.204C>T	c.(202-204)ccC>ccT	p.P68P	CABP1_ENST00000351200.2_Intron|CABP1_ENST00000288616.3_Intron|CABP1_ENST00000316803.3_Intron			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	43						cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCGGAAAGCCCCTCCCGGGAC	0.592000													6	5					0	0	0.029380	0	0
ZEB2	9839	broad.mit.edu	37	2	145156752	145156752	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:145156752C>A	ENST00000558170.2	-	8	3186	c.2002G>T	c.(2002-2004)Gag>Tag	p.E668*	ZEB2_ENST00000303660.4_Nonsense_Mutation_p.E668*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.E644*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.E668*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	668						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGTTGGGCTCCATGTTCATA	0.443000													15	63					0.000219431	0.000240384	0.020292	1	0
PSG2	5670	broad.mit.edu	37	19	43585056	43585056	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:43585056C>G	ENST00000406487.1	-	2	505	c.407G>C	c.(406-408)gGa>gCa	p.G136A		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	136	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGTGAAATATCCAGTTACTCC	0.502000													39	205					0	0	0.048971	0	0
ABCC9	10060	broad.mit.edu	37	12	22069878	22069878	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:22069878C>T	ENST00000261200.4	-	4	565	c.566G>A	c.(565-567)cGa>cAa	p.R189Q	ABCC9_ENST00000261201.4_Missense_Mutation_p.R189Q|ABCC9_ENST00000345162.2_Missense_Mutation_p.R189Q	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	189					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TACCCTGACTCGAATGACATT	0.418000													19	223					0	0	0.049695	0	0
EGFLAM	133584	broad.mit.edu	37	5	38464007	38464007	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:38464007C>T	ENST00000322350.5	+	22	3295	c.2949C>T	c.(2947-2949)ttC>ttT	p.F983F	CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000397202.2_Silent_p.F349F|EGFLAM_ENST00000397210.3_Silent_p.F126F|EGFLAM_ENST00000336740.6_Silent_p.F749F|EGFLAM_ENST00000514476.1_Silent_p.F126F|EGFLAM_ENST00000354891.3_Silent_p.F991F|EGFLAM_ENST00000506135.1_Silent_p.F126F	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	991	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCTCTCACTTCACCCTGTCCA	0.512000													7	51					0	0	0.029380	0	0
CLPX	10845	broad.mit.edu	37	15	65447416	65447416	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:65447416G>T	ENST00000300107.3	-	11	1503	c.1315C>A	c.(1315-1317)Ctt>Att	p.L439I		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	439					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						CCAAATCCAAGATACTGCCAA	0.373000													9	17					0.000274275	0.000298257	0.047766	1	0
ADCY5	111	broad.mit.edu	37	3	123022044	123022044	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:123022044A>T	ENST00000462833.1	-	14	3794	c.2582T>A	c.(2581-2583)cTg>cAg	p.L861Q	ADCY5_ENST00000491190.1_Missense_Mutation_p.L494Q|ADCY5_ENST00000309879.5_Missense_Mutation_p.L511Q	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	861					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCAGCCCAGCAGGTCCCTGGA	0.657000													9	19					0	0	0.069234	0	0
EGF	1950	broad.mit.edu	37	4	110920853	110920853	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:110920853C>T	ENST00000265171.5	+	21	3469	c.3024C>T	c.(3022-3024)atC>atT	p.I1008I	EGF_ENST00000509793.1_Silent_p.I966I|EGF_ENST00000503392.1_Silent_p.I967I	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1008	EGF-like 9.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTGGCTACATCGGGGAGCGAT	0.552000													40	59					0	0	0.042209	0	0
TTN	7273	broad.mit.edu	37	2	179465875	179465875	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:179465875G>A	ENST00000589042.1	-	288	55980	c.55756C>T	c.(55756-55758)Ctc>Ttc	p.L18586F	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L16018F|TTN_ENST00000342175.6_Missense_Mutation_p.L9713F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L9521F|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L16945F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L9646F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16945	Fibronectin type-III 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAATCTTGAGTTTAATAGGA	0.363000													8	116					0	0	0.038147	0	0
PROSER1	80209	broad.mit.edu	37	13	39600516	39600516	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:39600516C>A	ENST00000352251.3	-	6	1211	c.378G>T	c.(376-378)aaG>aaT	p.K126N	PROSER1_ENST00000350125.3_Missense_Mutation_p.K104N	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	126																	TGCAGCCCCCCTTGAAAGCCT	0.383000													27	40					1.04121e-07	1.24475e-07	0.108266	1	0
RNF213	57674	broad.mit.edu	37	17	78320002	78320002	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:78320002C>G	ENST00000582970.1	+	29	8010	c.7867C>G	c.(7867-7869)Cag>Gag	p.Q2623E	RNF213_ENST00000336301.6_Missense_Mutation_p.Q696E|RNF213_ENST00000508628.2_Missense_Mutation_p.Q2672E	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTGCGCCTCTCAGGGTTTCAT	0.522000													3	64					0	0	0.004672	0	0
PDZD9	255762	broad.mit.edu	37	16	22000025	22000025	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:22000025C>G	ENST00000286143.6	-	4	434	c.113G>C	c.(112-114)gGa>gCa	p.G38A	PDZD9_ENST00000424898.2_Missense_Mutation_p.G100A|PDZD9_ENST00000537222.2_Missense_Mutation_p.G40A			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	100	PDZ.									breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TAGCACTGTTCCAATAGTGAT	0.368000													5	53					0	0	0.021553	0	0
SOS1	6654	broad.mit.edu	37	2	39249779	39249779	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:39249779C>G	ENST00000426016.1	-	11	1876	c.1790G>C	c.(1789-1791)gGa>gCa	p.G597A	SOS1_ENST00000402219.2_Missense_Mutation_p.G597A|SOS1_ENST00000395038.2_Missense_Mutation_p.G597A			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	597	N-terminal Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AATTGGAATTCCAGCCTTGGG	0.408000									Noonan syndrome				5	51					0	0	0.029380	0	0
KLHL24	54800	broad.mit.edu	37	3	183369006	183369006	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:183369006G>A	ENST00000454652.1	+	4	1248	c.862G>A	c.(862-864)Gca>Aca	p.A288T	KLHL24_ENST00000476808.1_Missense_Mutation_p.A288T|KLHL24_ENST00000242810.6_Missense_Mutation_p.A288T			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	288						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GTTGCATGAAGCAAGACGGTA	0.413000													9	54					0	0	0.069234	0	0
ZNF25	219749	broad.mit.edu	37	10	38241154	38241154	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:38241154C>A	ENST00000302609.7	-	6	1484	c.1272G>T	c.(1270-1272)aaG>aaT	p.K424N	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				ACTCATAGGGCTTCTCCCCTG	0.448000													13	63					4.36969e-10	5.43001e-10	0.105934	1	0
PPIP5K2	23262	broad.mit.edu	37	5	102491652	102491652	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:102491652G>T	ENST00000321521.9	+	14	2016	c.1443G>T	c.(1441-1443)ttG>ttT	p.L481F	PPIP5K2_ENST00000358359.3_Missense_Mutation_p.L481F|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.L481F			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	481					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGGTTCAGTTGACCTATCTCC	0.318000													3	21					0.00909568	0.00950678	0.009096	1	0
PASK	23178	broad.mit.edu	37	2	242066327	242066327	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:242066327T>A	ENST00000403638.3	-	10	2094	c.2003A>T	c.(2002-2004)cAg>cTg	p.Q668L	PASK_ENST00000544142.1_Missense_Mutation_p.Q482L|PASK_ENST00000539818.1_Missense_Mutation_p.Q452L|PASK_ENST00000358649.4_Missense_Mutation_p.Q668L|PASK_ENST00000234040.4_Missense_Mutation_p.Q668L|PASK_ENST00000405260.1_Missense_Mutation_p.Q668L	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	668					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AAGGCTCAACTGGGACAGCTG	0.607000													75	75					0	0	0.048971	0	0
RNF157	114804	broad.mit.edu	37	17	74152362	74152362	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:74152362G>A	ENST00000269391.6	-	14	1586	c.1454C>T	c.(1453-1455)tCg>tTg	p.S485L	RNF157_ENST00000319945.6_Missense_Mutation_p.S485L	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	485	Ser-rich.						zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TCCAGATGACGACAAGGTGAG	0.557000													12	90					0	0	0.080935	0	0
USP32	84669	broad.mit.edu	37	17	58332590	58332590	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:58332590C>T	ENST00000300896.4	-	10	1214	c.1020G>A	c.(1018-1020)caG>caA	p.Q340Q	USP32_ENST00000393003.3_Silent_p.Q340Q|USP32_ENST00000592339.1_Silent_p.Q10Q	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	340					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CACTCCAGATCTGATAGTCTT	0.368000													4	52					0	0	0.014758	0	0
NMUR2	56923	broad.mit.edu	37	5	151784003	151784003	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:151784003G>C	ENST00000255262.3	-	1	837	c.672C>G	c.(670-672)ttC>ttG	p.F224L	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	224					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGAGGAGGTAGAATAGGAAGG	0.532000													5	106					0	0	0.014758	0	0
ADCY5	111	broad.mit.edu	37	3	123051504	123051504	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:123051504G>A	ENST00000462833.1	-	4	2637	c.1425C>T	c.(1423-1425)atC>atT	p.I475I	ADCY5_ENST00000491190.1_Silent_p.I108I|ADCY5_ENST00000309879.5_Silent_p.I125I	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	475	Guanylate cyclase 1.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.I475M(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGAAGCCCTCGATGTCAGCAA	0.532000													7	18					0	0	0.058154	0	0
HERC4	26091	broad.mit.edu	37	10	69785392	69785392	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:69785392C>A	ENST00000395198.3	-	8	1066	c.819G>T	c.(817-819)caG>caT	p.Q273H	HERC4_ENST00000373700.4_Missense_Mutation_p.Q273H|HERC4_ENST00000277817.6_Missense_Mutation_p.Q163H|HERC4_ENST00000412272.2_Missense_Mutation_p.Q273H|HERC4_ENST00000395187.2_3'UTR	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	273					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TATGGCCCAACTGACCATACC	0.388000													45	93					5.2432e-18	6.92234e-18	0.048971	1	0
PCMTD2	55251	broad.mit.edu	37	20	62904848	62904848	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:62904848G>T	ENST00000308824.6	+	6	1108	c.981G>T	c.(979-981)ccG>ccT	p.P327P	PCMTD2_ENST00000299468.7_Intron|PCMTD2_ENST00000266078.6_Silent_p.P103P|PCMTD2_ENST00000369758.3_Silent_p.P300P	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	327						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.P327P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGACCCCGCCGGAAACAAAGC	0.507000													47	145					1.89013e-27	2.58062e-27	0.048971	1	0
TSN	7247	broad.mit.edu	37	2	122522735	122522735	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:122522735C>A	ENST00000389682.3	+	6	726	c.479C>A	c.(478-480)aCt>aAt	p.T160N	TSN_ENST00000498545.1_3'UTR|TSN_ENST00000409193.1_Missense_Mutation_p.T155N|TSN_ENST00000536142.1_Missense_Mutation_p.D133E	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	160					DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				AACAGCGTGACTGCTGGAGAC	0.512000													31	426					2.09667e-21	2.8082e-21	0.064281	1	0
EYA2	2139	broad.mit.edu	37	20	45702929	45702929	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:45702929G>C	ENST00000327619.5	+	7	990	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	EYA2_ENST00000317304.6_Missense_Mutation_p.E206Q|EYA2_ENST00000357410.3_Missense_Mutation_p.E206Q	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	206					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CGTCCTCCAGGAGGCATCTCA	0.592000													21	94					0	0	0.099896	0	0
ITGA3	3675	broad.mit.edu	37	17	48148264	48148264	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:48148264G>T	ENST00000320031.8	+	5	1051	c.721G>T	c.(721-723)Gac>Tac	p.D241Y	ITGA3_ENST00000007722.7_Missense_Mutation_p.D241Y|ITGA3_ENST00000544892.1_Missense_Mutation_p.D16Y	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	241					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TAGTTACAAGGACCCAGAGGA	0.502000													13	97					1.49906e-05	1.67822e-05	0.020292	1	0
IGKV3-15	28913	broad.mit.edu	37	2	89384811	89384811	+	RNA	SNP	A	A	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:89384811A>G	ENST00000390252.2	-	0	303																											TGGATGCACCATAGATGAGGA	0.582000													18	80					0	0	0.049695	0	0
YEATS2	55689	broad.mit.edu	37	3	183493712	183493712	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:183493712C>T	ENST00000305135.5	+	18	2573	c.2378C>T	c.(2377-2379)tCt>tTt	p.S793F		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	793					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GATCTCCAGTCTGGCTCAGCT	0.522000													7	32					0	0	0.038147	0	0
SHBG	6462	broad.mit.edu	37	17	7534966	7534966	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:7534966G>C	ENST00000380450.4	+	5	646	c.615G>C	c.(613-615)gaG>gaC	p.E205D	SHBG_ENST00000572262.1_Missense_Mutation_p.E93D|SHBG_ENST00000576728.1_Missense_Mutation_p.E93D|SHBG_ENST00000576478.1_Missense_Mutation_p.E93D|SHBG_ENST00000575903.1_Missense_Mutation_p.E187D|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000575314.1_Missense_Mutation_p.E147D|SHBG_ENST00000441599.2_Missense_Mutation_p.E205D|SHBG_ENST00000416273.3_Missense_Mutation_p.E205D|SHBG_ENST00000574539.1_Missense_Mutation_p.E147D|SHBG_ENST00000340624.5_Missense_Mutation_p.E147D|SHBG_ENST00000570547.1_Missense_Mutation_p.E147D	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	205	Laminin G-like 1.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	AACAGGCCGAGATCTCAGCAT	0.542000													8	85					0	0	0.047766	0	0
PKP4	8502	broad.mit.edu	37	2	159488402	159488402	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:159488402G>C	ENST00000389757.3	+	8	1416	c.1291G>C	c.(1291-1293)Gga>Cga	p.G431R	PKP4_ENST00000389759.3_Missense_Mutation_p.G431R	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	431					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCCAAACCATGGAACTGTGGA	0.532000										HNSCC(62;0.18)			6	133					0	0	0.021553	0	0
C2orf78	388960	broad.mit.edu	37	2	74043093	74043093	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:74043093C>A	ENST00000409561.1	+	3	1864	c.1743C>A	c.(1741-1743)tcC>tcA	p.S581S		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	581	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AGAACAGCTCCAAGAAATCTG	0.433000													28	91					2.24059e-21	2.99826e-21	0.030593	1	0
CTTNBP2	83992	broad.mit.edu	37	7	117432049	117432049	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:117432049G>T	ENST00000160373.3	-	4	1292	c.1201C>A	c.(1201-1203)Ctt>Att	p.L401I		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	401	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTACTGGGAAGTGGGGGTGTG	0.532000													7	107					0.00307968	0.00326733	0.038147	1	0
KIF4B	285643	broad.mit.edu	37	5	154394300	154394300	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:154394300C>A	ENST00000435029.4	+	1	1041	c.881C>A	c.(880-882)aCt>aAt	p.T294N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	294	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCAAGTTAACTCGACTGCTG	0.438000													10	184					0.000442599	0.000479888	0.058154	1	0
BAZ2A	11176	broad.mit.edu	37	12	57007918	57007918	+	Silent	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:57007918C>G	ENST00000179765.5	-	5	844	c.645G>C	c.(643-645)ctG>ctC	p.L215L	BAZ2A_ENST00000379441.3_Silent_p.L217L|BAZ2A_ENST00000551812.1_Silent_p.L247L|BAZ2A_ENST00000549884.1_Silent_p.L245L			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	247					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			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CACACATCTTCAGTTCTAGGA	0.453000													9	163					0	0	0.093190	0	0
C2orf16	84226	broad.mit.edu	37	2	27802077	27802077	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:27802077T>A	ENST00000408964.2	+	1	2689	c.2638T>A	c.(2638-2640)Tgg>Agg	p.W880R		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	880										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGTCATGCCTGGAGGCAGCG	0.463000													13	59					0	0	0.093190	0	0
PEX10	5192	broad.mit.edu	37	1	2339912	2339912	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:2339912C>G	ENST00000288774.3	-	3	606	c.579G>C	c.(577-579)aaG>aaC	p.K193N	PEX10_ENST00000447513.2_Missense_Mutation_p.K193N|PEX10_ENST00000507596.1_Missense_Mutation_p.K193N	NM_153818.1	NP_722540.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	193					protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		CCGTGAGCCTCTTGGCCAGGT	0.612000													11	37					0	0	0.080935	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41318433	41318433	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:41318433C>T	ENST00000357137.4	+	8	1236	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	XPNPEP3_ENST00000544094.1_Silent_p.I361I	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	384					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						TGGAGAACATCTACAGCATGA	0.463000													69	476					0	0	0.048971	0	0
LINC00854	100874261	broad.mit.edu	37	17	41382190	41382190	+	RNA	SNP	G	G	C	rs2356314		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:41382190G>C	ENST00000433702.2	-	0	14					NR_047479.1																						aacaactgctgcaagaggggc	0.532000													9	87					0	0	0.105934	0	0
PIGR	5284	broad.mit.edu	37	1	207107855	207107855	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:207107855C>T	ENST00000356495.4	-	6	1798	c.1615G>A	c.(1615-1617)Gag>Aag	p.E539K		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	539	Ig-like V-type 5.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TACCAGCCCTCATCAGCCCTG	0.602000													6	60					0	0	0.029380	0	0
PBX3	5090	broad.mit.edu	37	9	128692084	128692084	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:128692084G>A	ENST00000373487.4	+	4	747	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	PBX3_ENST00000342287.5_Missense_Mutation_p.E223K|PBX3_ENST00000447726.2_Missense_Mutation_p.E148K|PBX3_ENST00000373489.5_Missense_Mutation_p.E223K|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373483.2_Missense_Mutation_p.E42K			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	223					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						AAGCACTTGTGAAGCAGTTAT	0.408000													14	120					0	0	0.024245	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39425497	39425497	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:39425497C>T	ENST00000216099.7	+	5	1142	c.735C>T	c.(733-735)ttC>ttT	p.F245F	APOBEC3D_ENST00000381568.4_Silent_p.F245F|APOBEC3D_ENST00000427494.2_Intron	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	245					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CAGCTGTCTTCCGGAAGAGGG	0.478000													15	111					0	0	0.020292	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57872991	57872991	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:57872991G>A	ENST00000393797.2	-	5	604	c.412C>T	c.(412-414)Cta>Tta	p.L138L	ARHGAP9_ENST00000356411.2_Silent_p.L67L|ARHGAP9_ENST00000550288.1_Silent_p.L146L|ARHGAP9_ENST00000424809.2_Silent_p.L67L|ARHGAP9_ENST00000393791.3_Silent_p.L67L			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	67					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GGAGCTTCTAGGCGTCTTGCC	0.557000													94	137					0	0	0.048971	0	0
PKP4	8502	broad.mit.edu	37	2	159519835	159519835	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:159519835G>C	ENST00000389757.3	+	15	2580	c.2455G>C	c.(2455-2457)Gag>Cag	p.E819Q	PKP4_ENST00000389759.3_Missense_Mutation_p.E819Q|PKP4_ENST00000495123.1_3'UTR|AC005042.4_ENST00000342892.4_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	819					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CAAAGGGGTTGAGATGCTGTG	0.507000										HNSCC(62;0.18)			12	102					0	0	0.020292	0	0
TTC31	64427	broad.mit.edu	37	2	74719278	74719278	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:74719278G>T	ENST00000410003.1	+	10	950	c.941G>T	c.(940-942)aGc>aTc	p.S314I	TTC31_ENST00000442235.2_Intron|TTC31_ENST00000233623.5_Missense_Mutation_p.S314I			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	314							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TTGGGTACCAGCTTTGCTCAA	0.587000													17	98					4.14922e-12	5.28017e-12	0.028581	1	0
ARHGAP25	9938	broad.mit.edu	37	2	69045122	69045122	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:69045122G>T	ENST00000295381.3	+	8	1415	c.996G>T	c.(994-996)atG>atT	p.M332I	ARHGAP25_ENST00000409220.1_Missense_Mutation_p.M326I|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.M333I|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.M293I|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.M325I|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.M326I|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.M26I	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	332	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCGTGATCATGAGAGGTATGG	0.478000													6	120					4.68919e-08	5.62855e-08	0.069234	1	0
SCN5A	6331	broad.mit.edu	37	3	38622506	38622506	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:38622506G>A	ENST00000413689.1	-	17	3337	c.3144C>T	c.(3142-3144)ccC>ccT	p.P1048P	SCN5A_ENST00000443581.1_Silent_p.P1048P|SCN5A_ENST00000425664.1_Silent_p.P1048P|SCN5A_ENST00000455624.2_Silent_p.P1048P|SCN5A_ENST00000450102.2_Silent_p.P1048P|SCN5A_ENST00000414099.2_Silent_p.P1048P|SCN5A_ENST00000449557.2_Silent_p.P1048P|SCN5A_ENST00000333535.4_Silent_p.P1048P|SCN5A_ENST00000451551.2_Silent_p.P1048P|SCN5A_ENST00000423572.2_Silent_p.P1048P	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1048					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCACAGCGATGGGCACACACA	0.632000													19	13					0	0	0.049695	0	0
EPHA3	2042	broad.mit.edu	37	3	89480446	89480446	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:89480446G>T	ENST00000336596.2	+	13	2508	c.2283G>T	c.(2281-2283)aaG>aaT	p.K761N	EPHA3_ENST00000494014.1_Missense_Mutation_p.K761N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	761	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding	p.K761N(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGTGTGTAAGGTTTCTGATT	0.448000										TSP Lung(6;0.00050)			12	15					3.07112e-06	3.53167e-06	0.080935	1	0
CCBE1	147372	broad.mit.edu	37	18	57133973	57133973	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr18:57133973G>T	ENST00000439986.4	-	5	588	c.551C>A	c.(550-552)aCt>aAt	p.T184N	CCBE1_ENST00000398179.2_De_novo_Start_InFrame	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	184					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CTACTTACCAGTGTCATTGGG	0.388000													12	16					3.07112e-06	3.53167e-06	0.080935	1	0
CNDP2	55748	broad.mit.edu	37	18	72180810	72180810	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr18:72180810G>A	ENST00000324262.4	+	8	1075	c.759G>A	c.(757-759)aaG>aaA	p.K253K	CNDP2_ENST00000579847.1_Silent_p.K253K|CNDP2_ENST00000324301.8_Silent_p.K169K	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	253						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		TGGTGGACAAGAGGGGGAACA	0.607000													7	19					0	0	0.029380	0	0
SERHL	94009	broad.mit.edu	37	22	42905054	42905054	+	RNA	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:42905054C>T	ENST00000359906.2	+	0	635					NR_027786.1				serine hydrolase-like									p.S185L(1)		endometrium(1)|large_intestine(1)	2						GCATTGACTTCGTCAGCAGGG	0.552000													5	49					0	0	0.014758	0	0
CARD14	79092	broad.mit.edu	37	17	78156489	78156489	+	Silent	SNP	C	C	T	rs148170776		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:78156489C>T	ENST00000573882.1	+	5	785	c.249C>T	c.(247-249)aaC>aaT	p.N83N	CARD14_ENST00000344227.2_Silent_p.N83N|CARD14_ENST00000570421.1_Silent_p.N83N			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	83	CARD.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GAGGGAAGAACGGGGCCATCG	0.597000													4	48					0	0	0.009096	0	0
DCC	1630	broad.mit.edu	37	18	50683754	50683754	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr18:50683754G>T	ENST00000442544.2	+	8	1906	c.1290G>T	c.(1288-1290)tcG>tcT	p.S430S	DCC_ENST00000412726.1_Silent_p.S278S|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Silent_p.S85S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	430	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCCTCCCTTCGGCTCCCAGAG	0.547000													66	75					2.01871e-26	2.7511e-26	0.048971	1	0
PLOD1	5351	broad.mit.edu	37	1	12008052	12008052	+	Silent	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:12008052G>C	ENST00000196061.4	+	2	123	c.96G>C	c.(94-96)acG>acC	p.T32T	PLOD1_ENST00000376369.3_Silent_p.T79T|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	32					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	TAGTCCTCACGGTGGCCACTA	0.542000													10	12					0	0	0.058154	0	0
PIGX	54965	broad.mit.edu	37	3	196454981	196454981	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:196454981C>A	ENST00000314118.4	+	4	665	c.383C>A	c.(382-384)cCa>cAa	p.P128Q	PIGX_ENST00000541663.1_Missense_Mutation_p.P61Q|PIGX_ENST00000421265.1_Missense_Mutation_p.P128Q	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	169					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		GTCAATAACCCAGATTTGTTG	0.468000													16	53					1.67942e-08	2.03566e-08	0.038395	1	0
ATPAF2	91647	broad.mit.edu	37	17	17931576	17931576	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:17931576C>T	ENST00000474627.3	-	3	448	c.294G>A	c.(292-294)caG>caA	p.Q98Q	ATPAF2_ENST00000585101.1_Intron	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	98					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					TGATGGTATCCTGCTGGGAAT	0.557000													6	18					0	0	0.029380	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209427	140209427	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:140209427C>T	ENST00000529310.1	+	1	1865	c.1751C>T	c.(1750-1752)tCa>tTa	p.S584L	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCGCGGTCACTGGGTGCA	0.672000													10	59					0	0	0.093190	0	0
MYO3B	140469	broad.mit.edu	37	2	171259484	171259484	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:171259484G>C	ENST00000334231.6	+	19	2283	c.2283G>C	c.(2281-2283)caG>caC	p.Q761H	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.Q752H|MYO3B_ENST00000408978.4_Missense_Mutation_p.Q752H			Q8WXR4	MYO3B_HUMAN	myosin IIIB	752	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ATTTCAATCAGCATGTTTTTG	0.408000													59	97					0	0	0.048971	0	0
KDM5C	8242	broad.mit.edu	37	X	53222385	53222385	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:53222385G>A	ENST00000375401.3	-	26	4979	c.4447C>T	c.(4447-4449)Cgg>Tgg	p.R1483W	KDM5C_ENST00000404049.3_Missense_Mutation_p.R1482W|KDM5C_ENST00000375379.3_Missense_Mutation_p.R1480W|KDM5C_ENST00000375383.3_Missense_Mutation_p.R1439W|KDM5C_ENST00000452825.3_Intron	NM_004187.3	NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1483					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCTGAGCTCCGTACCCTCTTT	0.711000			"""N, F, S"""		clear cell renal carcinoma								13	57					0	0	0.024245	0	0
CSF1R	1436	broad.mit.edu	37	5	149433716	149433716	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:149433716C>T	ENST00000286301.3	-	22	3126	c.2835G>A	c.(2833-2835)gaG>gaA	p.E945E		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	945					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CACTAGAGCTCTCCTCCTCCA	0.597000													3	28					0	0	0.004672	0	0
MCM3AP	8888	broad.mit.edu	37	21	47660846	47660846	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr21:47660846C>A	ENST00000397708.1	-	27	5766	c.5512G>T	c.(5512-5514)Gag>Tag	p.E1838*	MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000291688.1_Nonsense_Mutation_p.E1838*|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1838					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGAGCACACTCTGTGCTCCTC	0.493000													17	178					1.00905e-13	1.30313e-13	0.049695	1	0
USP29	57663	broad.mit.edu	37	19	57640155	57640155	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:57640155C>A	ENST00000254181.4	+	4	566	c.112C>A	c.(112-114)Ctg>Atg	p.L38M	USP29_ENST00000598197.1_Missense_Mutation_p.L38M	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	38					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAAATTAAACTGGTGGTCAC	0.358000													17	32					2.23348e-06	2.58247e-06	0.028581	1	0
EXPH5	23086	broad.mit.edu	37	11	108380971	108380971	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:108380971G>A	ENST00000265843.4	-	6	5373	c.5263C>T	c.(5263-5265)Cct>Tct	p.P1755S	EXPH5_ENST00000428840.1_Missense_Mutation_p.P1679S|EXPH5_ENST00000443411.1_Missense_Mutation_p.P1567S|EXPH5_ENST00000525344.1_Missense_Mutation_p.P1748S	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1755					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGTGGAAAAGGAGGGCTCAGC	0.502000													14	69					0	0	0.024245	0	0
TP63	8626	broad.mit.edu	37	3	189526215	189526215	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:189526215C>G	ENST00000264731.3	+	4	568	c.479C>G	c.(478-480)tCt>tGt	p.S160C	TP63_ENST00000354600.5_Missense_Mutation_p.S66C|TP63_ENST00000440651.2_Missense_Mutation_p.S160C|TP63_ENST00000418709.2_Missense_Mutation_p.S160C|TP63_ENST00000449992.1_Intron|TP63_ENST00000320472.5_Missense_Mutation_p.S160C|TP63_ENST00000382063.4_Intron|TP63_ENST00000456148.1_Missense_Mutation_p.S66C|TP63_ENST00000392461.3_Missense_Mutation_p.S66C|TP63_ENST00000392463.2_Missense_Mutation_p.S66C|TP63_ENST00000392460.3_Missense_Mutation_p.S160C|TP63_ENST00000437221.1_Missense_Mutation_p.S66C	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	160					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GATGCTCTCTCTCCATCACCC	0.647000										HNSCC(45;0.13)			6	40					0	0	0.021553	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040548	103040548	+	Silent	SNP	A	A	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:103040548A>C	ENST00000264260.2	+	4	937	c.348A>C	c.(346-348)ccA>ccC	p.P116P	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	116					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTTTGACCCCAGGGGTGAATA	0.368000													5	75					0	0	0.021553	0	0
RNF43	54894	broad.mit.edu	37	17	56434993	56434993	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:56434993G>A	ENST00000584437.1	-	8	4099	c.2144C>T	c.(2143-2145)cCa>cTa	p.P715L	RNF43_ENST00000581868.1_Missense_Mutation_p.P588L|RNF43_ENST00000577625.1_Missense_Mutation_p.P588L|RNF43_ENST00000577716.1_Missense_Mutation_p.P715L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.P715L|RNF43_ENST00000500597.2_Missense_Mutation_p.P674L|RNF43_ENST00000583753.1_Missense_Mutation_p.P674L			Q68DV7	RNF43_HUMAN	ring finger protein 43	715	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACAGGGGCCTGGGGTTTCTGG	0.597000													36	159					0	0	0.086207	0	0
COL11A2	1302	broad.mit.edu	37	6	33153523	33153523	+	Silent	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:33153523G>C	ENST00000341947.2	-	6	1058	c.831C>G	c.(829-831)ccC>ccG	p.P277P	COL11A2_ENST00000357486.1_Silent_p.P277P|COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000395197.1_Silent_p.P277P|COL11A2_ENST00000374714.1_Intron|COL11A2_ENST00000374713.1_Intron|COL11A2_ENST00000374712.1_Silent_p.P277P	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	277	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CATAATAGGGGGGCTCGTAGT	0.547000													8	38					0	0	0.069234	0	0
NLRP12	91662	broad.mit.edu	37	19	54313598	54313598	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:54313598G>T	ENST00000324134.6	-	3	1483	c.1315C>A	c.(1315-1317)Ctg>Atg	p.L439M	NLRP12_ENST00000354278.3_Missense_Mutation_p.L439M|NLRP12_ENST00000345770.5_Missense_Mutation_p.L439M|NLRP12_ENST00000351894.4_Missense_Mutation_p.L439M|NLRP12_ENST00000391775.3_Missense_Mutation_p.L439M|NLRP12_ENST00000391772.1_Missense_Mutation_p.L439M|NLRP12_ENST00000391773.1_Missense_Mutation_p.L439M|NLRP12_ENST00000535162.1_Missense_Mutation_p.L439M	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	439	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGACTCAGCAGGTAGAGCATG	0.642000													15	51					9.16793e-09	1.11309e-08	0.033300	1	0
KEAP1	9817	broad.mit.edu	37	19	10610221	10610221	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:10610221C>A	ENST00000171111.5	-	2	1036	c.489G>T	c.(487-489)caG>caT	p.Q163H	KEAP1_ENST00000393623.2_Missense_Mutation_p.Q163H	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			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)			CGCTGTCGATCTGGTACATGA	0.582000													11	23					0.000978159	0.00105209	0.080935	1	0
LRP1B	53353	broad.mit.edu	37	2	141460101	141460101	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:141460101C>A	ENST00000389484.3	-	38	7016	c.6045G>T	c.(6043-6045)tgG>tgT	p.W2015C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2015					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCATTTGTCCCCATTCAGTCC	0.408000										TSP Lung(27;0.18)			11	49					0.010729	0.0112061	0.080935	1	0
ATL2	64225	broad.mit.edu	37	2	38542463	38542463	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:38542463G>C	ENST00000378954.4	-	5	618	c.617C>G	c.(616-618)tCt>tGt	p.S206C	ATL2_ENST00000419554.2_Missense_Mutation_p.S206C|ATL2_ENST00000402054.1_Missense_Mutation_p.S35C|ATL2_ENST00000406122.1_Missense_Mutation_p.S35C|ATL2_ENST00000546051.1_Missense_Mutation_p.S35C|ATL2_ENST00000332337.4_Missense_Mutation_p.S188C|ATL2_ENST00000539122.1_Missense_Mutation_p.S35C|ATL2_ENST00000452935.2_Missense_Mutation_p.S188C	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	206					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						AATATTCTGAGACAGATTATA	0.294000													3	37					0	0	0.009096	0	0
TTC18	118491	broad.mit.edu	37	10	75107924	75107924	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:75107924G>C	ENST00000310715.3	-	5	539	c.419C>G	c.(418-420)tCa>tGa	p.S140*	TTC18_ENST00000355577.3_De_novo_Start_InFrame|TTC18_ENST00000394865.1_Nonsense_Mutation_p.S140*|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000340329.3_Nonsense_Mutation_p.S140*|TTC18_ENST00000401621.2_Nonsense_Mutation_p.S140*	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	140							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTTAGCACTTGATCTAGGAGT	0.408000													15	45					0	0	0.028581	0	0
CDH6	1004	broad.mit.edu	37	5	31323244	31323244	+	Silent	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:31323244C>G	ENST00000265071.2	+	12	2467	c.2202C>G	c.(2200-2202)tcC>tcG	p.S734S		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	734					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CATACGACTCCTTGGCCACTT	0.532000													5	30					0	0	0.014758	0	0
HDAC11	79885	broad.mit.edu	37	3	13543374	13543374	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:13543374C>T	ENST00000295757.3	+	7	676	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	HDAC11_ENST00000446613.2_5'UTR|HDAC11_ENST00000437379.2_Silent_p.L137L|HDAC11_ENST00000433119.1_Silent_p.F122F|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000522202.1_Silent_p.L114L|HDAC11_ENST00000495099.2_3'UTR|HDAC11_ENST00000402271.1_Silent_p.L86L	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	165	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						CTGGCAGTTTCTGTTTGAGCG	0.627000													9	9					0	0	0.080935	0	0
PRDM9	56979	broad.mit.edu	37	5	23527708	23527708	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:23527708T>A	ENST00000296682.3	+	11	2693	c.2511T>A	c.(2509-2511)tgT>tgA	p.C837*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	837					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GCAGGGAGTGTGGGCGGGGCT	0.592000										HNSCC(3;0.000094)			45	129					0	0	0.048971	0	0
ABCC8	6833	broad.mit.edu	37	11	17432168	17432168	+	Silent	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:17432168C>G	ENST00000302539.4	-	22	2717	c.2592G>C	c.(2590-2592)ctG>ctC	p.L864L	ABCC8_ENST00000389817.3_Silent_p.L863L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	863	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGTGGTCACTCAGATGGATAT	0.562000													18	95					0	0	0.043863	0	0
CYP4F11	57834	broad.mit.edu	37	19	16034628	16034628	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:16034628C>T	ENST00000326742.7	-	6	913	c.912G>A	c.(910-912)ctG>ctA	p.L304L	CYP4F11_ENST00000402119.3_Silent_p.L304L|CYP4F11_ENST00000248041.7_Silent_p.L304L			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	304					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CTACCTTGCTCAGCAGAAGCA	0.473000													10	94					0	0	0.080935	0	0
ATP11C	286410	broad.mit.edu	37	X	138857046	138857046	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:138857046G>A	ENST00000370557.1	-	19	3046	c.2019C>T	c.(2017-2019)ctC>ctT	p.L673L	ATP11C_ENST00000370543.1_Silent_p.L676L|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Silent_p.L676L|ATP11C_ENST00000359686.2_Silent_p.L676L|ATP11C_ENST00000327569.3_Silent_p.L676L			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	676					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGTCCCCAGTGAGCACCCAGA	0.478000													12	96					0	0	0.093190	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135239743	135239743	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:135239743G>A	ENST00000265605.2	-	7	1342	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.S371F|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.S375F	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	425					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CACATTGCTGGACCACACGGT	0.557000													3	14					0	0	0.009096	0	0
GNE	10020	broad.mit.edu	37	9	36227406	36227406	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:36227406G>A	ENST00000396594.3	-	7	1324	c.1213C>T	c.(1213-1215)Ctc>Ttc	p.L405F	GNE_ENST00000377902.5_Missense_Mutation_p.L374F|GNE_ENST00000539208.1_Missense_Mutation_p.L264F|GNE_ENST00000447283.2_Missense_Mutation_p.L374F|GNE_ENST00000539815.1_Missense_Mutation_p.L374F|GNE_ENST00000543356.2_Missense_Mutation_p.L369F	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	374					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			ATAGATTTGAGAAACTTCAAA	0.343000													4	31					0	0	0.014758	0	0
DIS3L2	129563	broad.mit.edu	37	2	232952411	232952411	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:232952411C>T	ENST00000325385.7	+	6	857	c.581C>T	c.(580-582)tCa>tTa	p.S194L	DIS3L2_ENST00000409401.3_Missense_Mutation_p.S194L|DIS3L2_ENST00000409307.1_Missense_Mutation_p.S194L|DIS3L2_ENST00000360410.4_Missense_Mutation_p.S194L|DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000273009.6_Missense_Mutation_p.S194L	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	194							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AAGAAACTCTCAGTTTGTGTT	0.398000													6	46					0	0	0.021553	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95072761	95072761	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:95072761G>T	ENST00000379982.3	+	3	905	c.397G>T	c.(397-399)Gtt>Ttt	p.V133F		NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	133	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TATTGCTGCTGTTGGTACCAG	0.269000													12	32					5.50884e-06	6.26197e-06	0.093190	1	0
OLA1	29789	broad.mit.edu	37	2	174988383	174988383	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:174988383T>A	ENST00000284719.3	-	6	816	c.570A>T	c.(568-570)aaA>aaT	p.K190N	OLA1_ENST00000428402.2_Missense_Mutation_p.K190N|OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000409546.1_Missense_Mutation_p.K210N|OLA1_ENST00000344357.5_Missense_Mutation_p.K32N	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1	190					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TAACCCAGGATTTTACTTTGC	0.284000													15	81					0	0	0.033300	0	0
PTPRT	11122	broad.mit.edu	37	20	40864877	40864877	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:40864877G>A	ENST00000373198.3	-	16	2626	c.2391C>T	c.(2389-2391)tcC>tcT	p.S797S	PTPRT_ENST00000356100.2_Intron|PTPRT_ENST00000373184.1_Intron|PTPRT_ENST00000373201.1_Intron|PTPRT_ENST00000373190.1_Silent_p.S778S|PTPRT_ENST00000373187.1_Silent_p.S778S|PTPRT_ENST00000373193.3_Silent_p.S778S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	778					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACAAGTAATAGGAGTAGGAAT	0.393000													22	109					0	0	0.091800	0	0
COL5A3	50509	broad.mit.edu	37	19	10099811	10099811	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:10099811G>A	ENST00000264828.3	-	27	2219	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	712	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTCACTCCCCGAGGTCCAGGA	0.547000													6	32					0	0	0.038147	0	0
SVOPL	136306	broad.mit.edu	37	7	138281194	138281194	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:138281194G>C	ENST00000421622.1	-	11	1283	c.1075C>G	c.(1075-1077)Ctc>Gtc	p.L359V	SVOPL_ENST00000436657.1_Missense_Mutation_p.L327V|SVOPL_ENST00000463557.1_5'UTR|SVOPL_ENST00000419765.3_Missense_Mutation_p.L479V|SVOPL_ENST00000288513.5_Missense_Mutation_p.L327V			Q8N434	SVOPL_HUMAN	SVOP-like	479						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						TCGATGGGGAGAGTGAATGCA	0.483000													4	41					0	0	0.014758	0	0
HSD17B2	3294	broad.mit.edu	37	16	82131727	82131727	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:82131727C>G	ENST00000199936.4	+	5	1043	c.850C>G	c.(850-852)Ctg>Gtg	p.L284V	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	284					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GAAGGACATTCTGGACCACCT	0.527000													10	120					0	0	0.093190	0	0
HERC2	8924	broad.mit.edu	37	15	28361810	28361810	+	Splice_Site	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:28361810C>A	ENST00000261609.7	-	88	13718		c.e88+1			NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAGAAGCTCACCCAGGAAGCG	0.567000													4	30					0.00198382	0.00211531	0.029380	1	0
HEPACAM	220296	broad.mit.edu	37	11	124805828	124805828	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:124805828C>T	ENST00000298251.4	-	1	480	c.75G>A	c.(73-75)ctG>ctA	p.L25L		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	25					cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTGTCTGGATCAGAAGAAGGT	0.567000													5	29					0	0	0.029380	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409681	69409681	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:69409681G>C	ENST00000303714.4	+	16	1564	c.1242G>C	c.(1240-1242)aaG>aaC	p.K414N		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	414					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AAAAGGCAAAGAATGCAAGAG	0.438000									Familial Infantile Hemangioma				24	273					0	0	0.083992	0	0
TTN	7273	broad.mit.edu	37	2	179403426	179403426	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:179403426C>T	ENST00000589042.1	-	354	99354	c.99130G>A	c.(99130-99132)Gcc>Acc	p.A33044T	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A30476T|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A24171T|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A23979T|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A31403T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A24104T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31403							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)			TTCTTCCAGGCACTGTCTCCA	0.413000													10	208					0	0	0.080935	0	0
IL21R	50615	broad.mit.edu	37	16	27460064	27460064	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:27460064G>T	ENST00000337929.3	+	9	1550	c.1077G>T	c.(1075-1077)ggG>ggT	p.G359G	IL21R_ENST00000564089.1_Silent_p.G359G|IL21R_ENST00000395755.1_Silent_p.G359G|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Silent_p.G359G	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	359					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AGAACTCGGGGGGCTCAGCTT	0.617000			T	BCL6	NHL								14	20					4.14922e-12	5.28017e-12	0.028581	1	0
SUN2	25777	broad.mit.edu	37	22	39135817	39135817	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:39135817C>A	ENST00000405510.1	-	14	1846	c.1488G>T	c.(1486-1488)gtG>gtT	p.V496V	SUN2_ENST00000216064.4_Silent_p.V496V|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Silent_p.V485V|SUN2_ENST00000405018.1_Silent_p.V517V|SUN2_ENST00000406622.1_Silent_p.V496V	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	496					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GCATCTCTGCCACATGGGTGA	0.627000													4	43					1.23904e-05	1.39028e-05	0.014758	1	0
ZMIZ2	83637	broad.mit.edu	37	7	44800031	44800031	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:44800031G>T	ENST00000309315.4	+	9	1202	c.1079G>T	c.(1078-1080)cGt>cTt	p.R360L	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R360L|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R328L|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R302L|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R334L	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	360	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CAGCCTACCCGTTCCATCCCG	0.587000													8	24					0.00448238	0.00473852	0.047766	1	0
KCNH7	90134	broad.mit.edu	37	2	163241425	163241425	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:163241425T>A	ENST00000332142.5	-	13	2834	c.2735A>T	c.(2734-2736)gAc>gTc	p.D912V		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	912					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATCTGCAGAGTCTTCAGGATC	0.338000													46	69					0	0	0.045515	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111706259	111706259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:111706259G>A	ENST00000374595.4	-	16	2003	c.1924C>T	c.(1924-1926)Caa>Taa	p.Q642*	CTNNAL1_ENST00000374594.1_Nonsense_Mutation_p.Q43*|FAM206A_ENST00000374624.3_Intron|CTNNAL1_ENST00000325551.4_Nonsense_Mutation_p.Q642*|CTNNAL1_ENST00000325580.6_Nonsense_Mutation_p.Q558*			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	642					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GAAAAAGCTTGAACACTGGAA	0.373000													8	107					0	0	0.047766	0	0
SERPINC1	462	broad.mit.edu	37	1	173883944	173883944	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:173883944A>T	ENST00000367698.3	-	2	273	c.155T>A	c.(154-156)aTg>aAg	p.M52K	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	52			M -> T (previously Whitechapel).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GTAAATGCACATGGGATTCAT	0.587000											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	187					0	0	0.048971	0	0
TTN	7273	broad.mit.edu	37	2	179400235	179400235	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:179400235G>T	ENST00000589042.1	-	358	101331	c.101107C>A	c.(101107-101109)Cga>Aga	p.R33703R	TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.R31135R|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.R24830R|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.R24638R|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000591111.1_Silent_p.R32062R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.R24763R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32062	Ig-like 148.						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)			ACAGAATCTCGTGAGACATCA	0.438000													21	52					7.45023e-12	9.44035e-12	0.055883	1	0
ARID5B	84159	broad.mit.edu	37	10	63852624	63852624	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:63852624G>A	ENST00000279873.7	+	10	3812	c.3402G>A	c.(3400-3402)ccG>ccA	p.P1134P	ARID5B_ENST00000309334.5_Silent_p.P891P	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1134					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TTACATCACCGACAAATTCTC	0.463000													6	90					0	0	0.021553	0	0
ITCH	83737	broad.mit.edu	37	20	33033185	33033185	+	Silent	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:33033185C>G	ENST00000374864.4	+	11	1272	c.1059C>G	c.(1057-1059)gtC>gtG	p.V353V	ITCH_ENST00000262650.6_Silent_p.V394V|ITCH_ENST00000535650.1_Silent_p.V243V|ITCH_ENST00000483727.1_3'UTR	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	394	WW 1.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TGGAATCCGTCCGGAACTATG	0.468000													29	104					0	0	0.054565	0	0
LUZP1	7798	broad.mit.edu	37	1	23418753	23418753	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:23418753G>A	ENST00000302291.4	-	4	2803	c.2002C>T	c.(2002-2004)Ctt>Ttt	p.L668F	LUZP1_ENST00000418342.1_Missense_Mutation_p.L668F|LUZP1_ENST00000314174.5_Missense_Mutation_p.L668F|LUZP1_ENST00000374623.3_Missense_Mutation_p.L668F			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	668						nucleus				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)		GCAGTAACAAGAGATGCTATG	0.498000													48	197					0	0	0.048971	0	0
DQX1	165545	broad.mit.edu	37	2	74752171	74752171	+	Silent	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:74752171G>C	ENST00000404568.3	-	3	615	c.396C>G	c.(394-396)ccC>ccG	p.P132P	DQX1_ENST00000393951.2_Silent_p.P132P	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	132	Helicase ATP-binding.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						AGTCCTCCTGGGGGATGCTGT	0.582000													12	137					0	0	0.105934	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98392715	98392715	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:98392715G>A	ENST00000371109.3	-	1	283	c.102C>T	c.(100-102)ttC>ttT	p.F34F	PIK3AP1_ENST00000339364.5_Intron|PIK3AP1_ENST00000371110.2_Intron|PIK3AP1_ENST00000468783.1_Intron			Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	0						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		gcagggcagtgaagagagctg	0.483000													6	97					0	0	0.021553	0	0
NTF3	4908	broad.mit.edu	37	12	5603706	5603706	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:5603706G>A	ENST00000423158.3	+	2	577	c.365G>A	c.(364-366)aGc>aAc	p.S122N	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.S109N	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	109					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CTGAGCGACAGCACCCCCTTG	0.622000													32	26					0	0	0.045705	0	0
PIK3CD	5293	broad.mit.edu	37	1	9783262	9783262	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:9783262A>T	ENST00000536656.1	+	20	2786	c.2578A>T	c.(2578-2580)Aac>Tac	p.N860Y	PIK3CD_ENST00000361110.2_Missense_Mutation_p.N860Y|PIK3CD_ENST00000377346.4_Missense_Mutation_p.N836Y			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	836	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CACCATCGCCAACATCCAACT	0.597000													11	14					0	0	0.069234	0	0
C20orf112	140688	broad.mit.edu	37	20	31044011	31044011	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:31044011C>T	ENST00000359676.5	-	3	439	c.297G>A	c.(295-297)acG>acA	p.T99T	C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN	chromosome 20 open reading frame 112	99										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						TGCCAAGTGCCGTGGCCGGCG	0.682000													16	32					0	0	0.028581	0	0
EXTL1	2134	broad.mit.edu	37	1	26360188	26360188	+	Splice_Site	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:26360188T>A	ENST00000374280.3	+	9	2387	c.1518_splice	c.e9-1	p.V507_splice		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	507					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		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;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCCCAGGTGGACTTTGCC	0.622000													17	41					0	0	0.049695	0	0
C5orf42	65250	broad.mit.edu	37	5	37180167	37180167	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:37180167C>G	ENST00000274258.7	-	28	5916	c.2329G>C	c.(2329-2331)Gaa>Caa	p.E777Q	C5orf42_ENST00000425232.2_Missense_Mutation_p.E1897Q|C5orf42_ENST00000508244.1_Missense_Mutation_p.E1897Q			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1897										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GTAAATGCTTCTACTTCTAAA	0.254000													6	89					0	0	0.038147	0	0
NEB	4703	broad.mit.edu	37	2	152484282	152484282	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:152484282C>T	ENST00000427231.2	-	69	10100	c.9898G>A	c.(9898-9900)Gac>Aac	p.D3300N	NEB_ENST00000409198.1_Missense_Mutation_p.D3057N|NEB_ENST00000603639.1_Missense_Mutation_p.D3300N|NEB_ENST00000397345.3_Missense_Mutation_p.D3300N|NEB_ENST00000172853.10_Missense_Mutation_p.D3057N|NEB_ENST00000604864.1_Missense_Mutation_p.D3300N	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	3300					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATCTTGGGGTCATCTTCAATG	0.453000													15	371					0	0	0.020292	0	0
ZNF616	90317	broad.mit.edu	37	19	52618107	52618107	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:52618107C>A	ENST00000600228.1	-	4	2571	c.2310G>T	c.(2308-2310)gaG>gaT	p.E770D	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	770					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTGTAAGGCTCTCTCCAGTAT	0.368000													22	52					5.26018e-13	6.74616e-13	0.062417	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64524897	64524897	+	Silent	SNP	G	G	A	rs148016958		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:64524897G>A	ENST00000498707.1	-	37	5937	c.5595C>T	c.(5593-5595)agC>agT	p.S1865S	ADAMTS9_ENST00000295903.4_Silent_p.S1837S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1865	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACTTGGCAGCGCTGTAGCAAT	0.577000													7	31					0	0	0.029380	0	0
ANKRD17	26057	broad.mit.edu	37	4	73979564	73979564	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:73979564G>A	ENST00000358602.4	-	24	4462	c.4346C>T	c.(4345-4347)gCt>gTt	p.A1449V	ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1336V|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1198V|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1449					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCTTCAGCAGCCTGTCTATC	0.368000													18	153					0	0	0.055883	0	0
NLRP12	91662	broad.mit.edu	37	19	54314121	54314121	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:54314121C>A	ENST00000324134.6	-	3	960	c.792G>T	c.(790-792)atG>atT	p.M264I	NLRP12_ENST00000354278.3_Missense_Mutation_p.M264I|NLRP12_ENST00000345770.5_Missense_Mutation_p.M264I|NLRP12_ENST00000351894.4_Missense_Mutation_p.M264I|NLRP12_ENST00000391775.3_Missense_Mutation_p.M264I|NLRP12_ENST00000391772.1_Missense_Mutation_p.M264I|NLRP12_ENST00000391773.1_Missense_Mutation_p.M264I|NLRP12_ENST00000535162.1_Missense_Mutation_p.M264I	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	264	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGAGGTCTTGCATGCTGCATT	0.567000													11	23					3.03607e-14	3.93122e-14	0.093190	1	0
GFRAL	389400	broad.mit.edu	37	6	55216120	55216120	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:55216120A>T	ENST00000340465.2	+	5	526	c.440A>T	c.(439-441)cAg>cTg	p.Q147L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	147						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGTAATGCACAGTTGGCCTCT	0.458000													39	264					0	0	0.086207	0	0
TSEN34	79042	broad.mit.edu	37	19	54695775	54695775	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:54695775G>C	ENST00000396383.1	+	3	758	c.447G>C	c.(445-447)gaG>gaC	p.E149D	TSEN34_ENST00000396388.2_Missense_Mutation_p.E149D|TSEN34_ENST00000302937.4_Missense_Mutation_p.E149D|TSEN34_ENST00000429671.2_Missense_Mutation_p.E149D			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	149					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AAGAGGATGAGACCAGTGATG	0.592000													6	84					0	0	0.058154	0	0
TENM1	10178	broad.mit.edu	37	X	123870932	123870932	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:123870932C>T	ENST00000422452.2	-	4	714	c.651G>A	c.(649-651)caG>caA	p.Q217Q	TENM1_ENST00000371130.3_Silent_p.Q217Q	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTGATCTCCTCTGAAGAGAGT	0.622000													8	44					0	0	0.047766	0	0
ANK3	288	broad.mit.edu	37	10	61833745	61833745	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:61833745C>A	ENST00000280772.1	-	37	7085	c.6894G>T	c.(6892-6894)tcG>tcT	p.S2298S	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2298					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			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						GAGACACTGCCGACTTATGTT	0.473000													11	72					9.31168e-06	1.05604e-05	0.105934	1	0
ELL2	22936	broad.mit.edu	37	5	95234077	95234077	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:95234077C>G	ENST00000237853.4	-	8	1741	c.1392G>C	c.(1390-1392)aaG>aaC	p.K464N	ELL2_ENST00000431061.2_Missense_Mutation_p.K214N	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	464					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TTTTAGACTTCTTTTTGGACT	0.388000													11	90					0	0	0.093190	0	0
CDCP1	64866	broad.mit.edu	37	3	45153867	45153867	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:45153867G>A	ENST00000296129.1	-	3	497	c.363C>T	c.(361-363)ctC>ctT	p.L121L	CDCP1_ENST00000425231.2_Silent_p.L121L|CDCP1_ENST00000490471.1_5'UTR	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	121						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AAGTTCTGTTGAGGGTAGGCA	0.498000													17	235					0	0	0.038395	0	0
PPL	5493	broad.mit.edu	37	16	4933615	4933615	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:4933615C>G	ENST00000345988.2	-	22	5130	c.5041G>C	c.(5041-5043)Gac>Cac	p.D1681H	PPL_ENST00000590782.2_Missense_Mutation_p.D1679H	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1681					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ATGTTCCAGTCAATGAGCCCG	0.607000													11	109					0	0	0.093190	0	0
SPTBN1	6711	broad.mit.edu	37	2	54856193	54856193	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:54856193G>A	ENST00000333896.5	+	13	2268	c.1883G>A	c.(1882-1884)tGg>tAg	p.W628*	SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.W641*	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	641					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CGCCGCCTCTGGAAGTTCTTC	0.592000													6	57					0	0	0.058154	0	0
APOB	338	broad.mit.edu	37	2	21255357	21255357	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:21255357C>T	ENST00000233242.1	-	10	1348	c.1221G>A	c.(1219-1221)ctG>ctA	p.L407L	APOB_ENST00000399256.4_Silent_p.L407L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	407	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCACATCTATCAGAAGGGGGT	0.582000													12	123					0	0	0.105934	0	0
ZNF257	113835	broad.mit.edu	37	19	22270820	22270820	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:22270820G>C	ENST00000594947.1	+	4	412	c.268G>C	c.(268-270)Gac>Cac	p.D90H	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCCAGAGCGAGACATAAAATA	0.313000													7	24					0	0	0.029380	0	0
MAP3K5	4217	broad.mit.edu	37	6	137112905	137112905	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:137112905G>A	ENST00000359015.4	-	1	751	c.391C>T	c.(391-393)Cat>Tat	p.H131Y		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	131					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTCCCAAAATGCAGGGTTTCC	0.632000													8	64					0	0	0.093190	0	0
UNC79	57578	broad.mit.edu	37	14	94038399	94038399	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:94038399A>T	ENST00000553484.1	+	15	2069	c.1915A>T	c.(1915-1917)Aat>Tat	p.N639Y	UNC79_ENST00000256339.4_Missense_Mutation_p.N462Y|UNC79_ENST00000555664.1_Missense_Mutation_p.N639Y|UNC79_ENST00000393151.2_Missense_Mutation_p.N639Y			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	639						integral to membrane				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						AGTCCCAGATAATCAGTTAAA	0.398000													4	69					0	0	0.009096	0	0
SMURF2	64750	broad.mit.edu	37	17	62551057	62551057	+	Silent	SNP	T	T	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:62551057T>C	ENST00000262435.9	-	15	1852	c.1665A>G	c.(1663-1665)gcA>gcG	p.A555A		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	555	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TTTCACCATATGCATTATGTT	0.333000													5	46					0	0	0.014758	0	0
MUC16	94025	broad.mit.edu	37	19	9089921	9089921	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:9089921C>A	ENST00000397910.4	-	1	2097	c.1894G>T	c.(1894-1896)Gca>Tca	p.A632S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	632	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGATGATGCTGTGGCTCTG	0.577000													60	111					1.1794e-34	1.63133e-34	0.048971	1	0
NLRP2	55655	broad.mit.edu	37	19	55489136	55489136	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:55489136A>C	ENST00000543010.1	+	4	485	c.342A>C	c.(340-342)gaA>gaC	p.E114D	NLRP2_ENST00000427260.2_Missense_Mutation_p.E91D|NLRP2_ENST00000391721.4_Intron|NLRP2_ENST00000448584.2_Missense_Mutation_p.E114D|NLRP2_ENST00000263437.6_Missense_Mutation_p.E114D|NLRP2_ENST00000339757.7_Missense_Mutation_p.E114D|NLRP2_ENST00000537859.1_Missense_Mutation_p.E114D|NLRP2_ENST00000538819.1_Intron	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	114					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CACGGAAAGAACGACCACCTC	0.552000													5	86					0	0	0.029380	0	0
LCOR	84458	broad.mit.edu	37	10	98708959	98708959	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:98708959C>G	ENST00000540664.1	+	6	688	c.145C>G	c.(145-147)Cag>Gag	p.Q49E	LCOR_ENST00000498444.1_3'UTR|LCOR_ENST00000356016.3_Missense_Mutation_p.Q49E|LCOR_ENST00000371103.3_Missense_Mutation_p.Q49E|LCOR_ENST00000371097.4_Missense_Mutation_p.Q49E	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		TGCAACTACTCAGAACCCTGT	0.517000													7	121					0	0	0.038147	0	0
LRP1B	53353	broad.mit.edu	37	2	141283911	141283911	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:141283911A>C	ENST00000389484.3	-	48	8742	c.7771T>G	c.(7771-7773)Tgt>Ggt	p.C2591G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2591	LDL-receptor class A 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCGTGGCACAGGTTGAAACT	0.368000										TSP Lung(27;0.18)			6	88					0	0	0.021553	0	0
GPC4	2239	broad.mit.edu	37	X	132445407	132445407	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:132445407G>C	ENST00000370828.3	-	4	1280	c.756C>G	c.(754-756)atC>atG	p.I252M	GPC4_ENST00000535467.1_Missense_Mutation_p.I182M	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	252					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GGGAGCAGTAGATCATCTTCA	0.483000													13	45					0	0	0.105934	0	0
MYH4	4622	broad.mit.edu	37	17	10366672	10366672	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:10366672G>A	ENST00000255381.2	-	9	898	c.788C>T	c.(787-789)tCt>tTt	p.S263F	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	263	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AATATCTGCAGAAGCCAGTTT	0.308000													6	62					0	0	0.029380	0	0
SSFA2	6744	broad.mit.edu	37	2	182786826	182786826	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:182786826C>T	ENST00000431877.2	+	16	3541	c.3362C>T	c.(3361-3363)tCt>tTt	p.S1121F	SSFA2_ENST00000428267.2_Missense_Mutation_p.S946F|SSFA2_ENST00000409136.1_Missense_Mutation_p.S630F|SSFA2_ENST00000320370.7_Missense_Mutation_p.S1121F|SSFA2_ENST00000409001.1_Missense_Mutation_p.S1099F|SSFA2_ENST00000467172.2_3'UTR	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1121						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCTGGTCCCTCTCATGCTAAC	0.458000													7	220					0	0	0.029380	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834473	101834473	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:101834473G>C	ENST00000506729.1	-	1	247	c.76C>G	c.(76-78)Cgg>Ggg	p.R26G	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R26G|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R26G|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R26G|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R26G			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	26						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GGCTGGGCCCGCGCGGCCTCC	0.642000													10	84					0	0	0.080935	0	0
PANX3	116337	broad.mit.edu	37	11	124489751	124489751	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:124489751G>C	ENST00000284288.2	+	4	1166	c.1099G>C	c.(1099-1101)Gat>Cat	p.D367H		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	367					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CACAGTAGTTGATTTTATGAC	0.438000													8	57					0	0	0.105934	0	0
TAB2	23118	broad.mit.edu	37	6	149700305	149700305	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:149700305C>T	ENST00000367456.1	+	4	1831	c.1254C>T	c.(1252-1254)gcC>gcT	p.A418A	TAB2_ENST00000286332.5_Silent_p.A418A|TAB2_ENST00000538427.1_Silent_p.A418A|TAB2_ENST00000536230.1_Silent_p.A386A|TAB2_ENST00000392282.1_Silent_p.A418A			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	418					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CATCTGCTGCCTCCAGGAACA	0.498000													19	60					0	0	0.038395	0	0
USH2A	7399	broad.mit.edu	37	1	216495260	216495260	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:216495260G>A	ENST00000366943.2	-	9	1995	c.1609C>T	c.(1609-1611)Ctc>Ttc	p.L537F	USH2A_ENST00000366942.3_Missense_Mutation_p.L537F|USH2A_ENST00000307340.3_Missense_Mutation_p.L537F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	537	Laminin EGF-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGGAGCAGAGGCATCTATAT	0.423000										HNSCC(13;0.011)			8	87					0	0	0.080935	0	0
TTN	7273	broad.mit.edu	37	2	179434136	179434136	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:179434136C>T	ENST00000589042.1	-	326	76947	c.76723G>A	c.(76723-76725)Gat>Aat	p.D25575N	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D23007N|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D16702N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D16510N|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D23934N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D16635N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23934	Fibronectin type-III 86.						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)			TTTCCACTATCATATCGGTTG	0.418000													6	128					0	0	0.029380	0	0
GRIA2	2891	broad.mit.edu	37	4	158257004	158257004	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:158257004G>T	ENST00000296526.7	+	10	1773	c.1448G>T	c.(1447-1449)gGg>gTg	p.G483V	GRIA2_ENST00000393815.2_Missense_Mutation_p.G436V|GRIA2_ENST00000507898.1_Missense_Mutation_p.G436V|GRIA2_ENST00000449365.1_Missense_Mutation_p.G436V|GRIA2_ENST00000264426.9_Missense_Mutation_p.G483V	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	483					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATTTGGAATGGGATGGTTGGA	0.428000													3	19					0.00024832	0.000270828	0.009096	1	0
NCAPH	23397	broad.mit.edu	37	2	97031743	97031743	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:97031743G>C	ENST00000455200.1	+	14	2090	c.1795G>C	c.(1795-1797)Gga>Cga	p.G599R	NCAPH_ENST00000427946.1_Missense_Mutation_p.G474R|NCAPH_ENST00000240423.4_Missense_Mutation_p.G610R			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	610					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AGAAGCCCAAGGATTAGACAT	0.453000													8	81					0	0	0.047766	0	0
ZNF264	9422	broad.mit.edu	37	19	57716803	57716803	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:57716803G>C	ENST00000263095.6	+	3	613	c.199G>C	c.(199-201)Gag>Cag	p.E67Q	ZNF264_ENST00000536056.1_Missense_Mutation_p.E67Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CTGCCACCTAGAGCATGGGCA	0.517000													3	33					0	0	0.004672	0	0
PTPRR	5801	broad.mit.edu	37	12	71286585	71286585	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:71286585G>T	ENST00000283228.2	-	2	683	c.231C>A	c.(229-231)cgC>cgA	p.R77R		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	77					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CAATCTGGTGGCGTTTGCTTA	0.448000													37	146					4.14481e-20	5.51152e-20	0.086207	1	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249238	90249238	+	RNA	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:90249238C>A	ENST00000468879.1	+	0	375																											CCAGCAAAAGCCCCTAAGCTC	0.502000													93	190					4.21773e-46	5.86677e-46	0.048971	1	0
SYNE2	23224	broad.mit.edu	37	14	64473854	64473854	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:64473854C>G	ENST00000358025.3	+	31	4721	c.4491C>G	c.(4489-4491)ttC>ttG	p.F1497L	SYNE2_ENST00000344113.4_Missense_Mutation_p.F1497L|SYNE2_ENST00000554584.1_Missense_Mutation_p.F1497L|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1497					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCCACACTTCAAAGATGGCA	0.363000													47	399					0	0	0.048971	0	0
TTN	7273	broad.mit.edu	37	2	179534337	179534337	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:179534337C>T	ENST00000589042.1	-	158	35676	c.35452G>A	c.(35452-35454)Gaa>Aaa	p.E11818K	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9941	Glu-rich.|Pro-rich.						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)			GGTGGAACTTCAGGCTTTTTC	0.328000													16	299					0	0	0.049695	0	0
ZNF2	7549	broad.mit.edu	37	2	95843327	95843327	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:95843327G>C	ENST00000398107.2	+	2	529	c.7G>C	c.(7-9)Gag>Cag	p.E3Q	ZNF2_ENST00000295210.6_Missense_Mutation_p.E45Q|ZNF2_ENST00000425369.1_Missense_Mutation_p.E3Q|ZNF2_ENST00000453539.2_Missense_Mutation_p.E45Q|ZNF2_ENST00000340539.5_Missense_Mutation_p.E45Q	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	45				MAAVSPTTRCQ -> RGAVFPGPEHSVPE (in Ref. 3; CAB52138).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		GGTGATGCTGGAGAACTATAA	0.498000													4	122					0	0	0.009096	0	0
NFRKB	4798	broad.mit.edu	37	11	129739494	129739494	+	Silent	SNP	T	T	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:129739494T>C	ENST00000446488.3	-	23	3529	c.3426A>G	c.(3424-3426)gtA>gtG	p.V1142V	NFRKB_ENST00000524746.1_Silent_p.V1142V|NFRKB_ENST00000524794.1_Silent_p.V1167V|NFRKB_ENST00000304521.5_Silent_p.V1142V	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1142					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		AAGCCACAGCTACAGTCTTGG	0.622000													10	98					0	0	0.093190	0	0
ZC3H13	23091	broad.mit.edu	37	13	46549455	46549455	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:46549455T>A	ENST00000242848.4	-	12	2779	c.2431A>T	c.(2431-2433)Agg>Tgg	p.R811W	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R811W			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	811	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTTGGATTCCTATCTTCTCGG	0.363000													50	532					0	0	0.048971	0	0
MSRB2	22921	broad.mit.edu	37	10	23409755	23409755	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:23409755C>T	ENST00000376510.3	+	5	616	c.513C>T	c.(511-513)aaC>aaT	p.N171N	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	171					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	TTTGCATCAACAGTGTGGCTT	0.498000													8	26					0	0	0.047766	0	0
ENOX1	55068	broad.mit.edu	37	13	43930117	43930117	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:43930117G>C	ENST00000261488.6	-	8	1338	c.761C>G	c.(760-762)tCc>tGc	p.S254C	ENOX1_ENST00000540032.1_Missense_Mutation_p.S67C|ENOX1_ENST00000412891.1_Missense_Mutation_p.S254C	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	254					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGCAGGCGGGGATGGGGGCCT	0.627000													9	54					0	0	0.047766	0	0
SLC1A6	6511	broad.mit.edu	37	19	15064958	15064958	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:15064958G>C	ENST00000430939.2	-	7	1290	c.1161C>G	c.(1159-1161)atC>atG	p.I387M	SLC1A6_ENST00000221742.3_Missense_Mutation_p.I451M|SLC1A6_ENST00000600144.1_Missense_Mutation_p.I373M			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	451					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TGATGGTTGTGATCTGACCCA	0.597000													6	35					0	0	0.038147	0	0
PXDNL	137902	broad.mit.edu	37	8	52336186	52336186	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:52336186C>A	ENST00000356297.4	-	14	1844	c.1744G>T	c.(1744-1746)Gct>Tct	p.A582S	PXDNL_ENST00000543296.1_Missense_Mutation_p.A582S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	582	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GAATTCCGAGCCACACATTCA	0.453000													12	49					2.27111e-07	2.6933e-07	0.093190	1	0
AASDH	132949	broad.mit.edu	37	4	57237744	57237744	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:57237744G>C	ENST00000205214.6	-	5	914	c.734C>G	c.(733-735)tCt>tGt	p.S245C	AASDH_ENST00000451613.1_Missense_Mutation_p.S245C|AASDH_ENST00000513376.1_Missense_Mutation_p.S145C|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000502617.1_Missense_Mutation_p.S245C|AASDH_ENST00000510762.1_Intron|AASDH_ENST00000602986.1_Missense_Mutation_p.S92C	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	245					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTCCACAACAGAAGGATCGAA	0.418000													11	88					0	0	0.080935	0	0
TTN	7273	broad.mit.edu	37	2	179576050	179576050	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:179576050G>C	ENST00000589042.1	-	97	28137	c.27913C>G	c.(27913-27915)Cga>Gga	p.R9305G	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R8061G|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R8988G|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8988	Ig-like 76.						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)			CTCAATTGTCGAGAAAATGAT	0.348000													20	62					0	0	0.049695	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													5	35					0.0215528	0.0222597	0.021553	1	0
AQP9	366	broad.mit.edu	37	15	58476266	58476266	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:58476266G>T	ENST00000219919.4	+	6	1190	c.820G>T	c.(820-822)Gac>Tac	p.D274Y	AQP9_ENST00000558772.1_Missense_Mutation_p.D209Y|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.D274Y	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	274					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TCCAGAGCCTGACTCAGTCTT	0.453000													30	66					3.99451e-17	5.24102e-17	0.041601	1	0
CDC37	11140	broad.mit.edu	37	19	10502247	10502247	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:10502247C>T	ENST00000222005.2	-	8	1170	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	373					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		ACATCCTTCTCATCGCCCGTC	0.602000											OREG0025234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	55					0	0	0.021553	0	0
CLTC	1213	broad.mit.edu	37	17	57737831	57737831	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:57737831G>C	ENST00000269122.3	+	7	1323	c.1049G>C	c.(1048-1050)aGa>aCa	p.R350T	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.R350T	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	350	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTGGCTCTGAGAATGGCTGTA	0.403000			T	"""ALK, TFE3"""	"""ALCL, renal """								13	154					0	0	0.028581	0	0
LRP2	4036	broad.mit.edu	37	2	170097603	170097603	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:170097603T>A	ENST00000263816.3	-	25	4225	c.3940A>T	c.(3940-3942)Agt>Tgt	p.S1314C	LRP2_ENST00000443831.1_Missense_Mutation_p.S1177C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1314	LDL-receptor class A 15.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATTGCCAACTAGGACAGCGA	0.527000													49	107					0	0	0.048971	0	0
DHX29	54505	broad.mit.edu	37	5	54572151	54572151	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:54572151C>A	ENST00000251636.5	-	14	2518	c.2370G>T	c.(2368-2370)gaG>gaT	p.E790D	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	790	Poly-Glu.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CTTCTTCTTCCTCTTCCAGAA	0.308000													6	60					2.0095e-06	2.32894e-06	0.029380	1	0
MROH9	80133	broad.mit.edu	37	1	170964571	170964571	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:170964571C>A	ENST00000367759.4	+	13	1390	c.1236C>A	c.(1234-1236)taC>taA	p.Y412*	MROH9_ENST00000367758.3_Nonsense_Mutation_p.Y412*	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		TTGGTTCCTACAGGAAAGCGG	0.483000													65	50					1.42676e-28	1.95882e-28	0.048971	1	0
GNA11	2767	broad.mit.edu	37	19	3119001	3119001	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:3119001C>G	ENST00000078429.4	+	5	927	c.685C>G	c.(685-687)Ctc>Gtc	p.L229V	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	229					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CATCATGTTTCTCGTCGCCCT	0.637000			Mis		uveal melanoma								4	20					0	0	0.009096	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617728	77617728	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:77617728C>A	ENST00000521891.2	+	2	1853	c.1405C>A	c.(1405-1407)Ccg>Acg	p.P469T	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P469T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P469T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P469T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	469						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACCCACTGAACCGGGAGATGA	0.453000										HNSCC(33;0.089)			11	45					2.61681e-11	3.29607e-11	0.020292	1	0
ITGB3	3690	broad.mit.edu	37	17	45384961	45384961	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:45384961C>T	ENST00000560629.1	+	14	2224	c.2224C>T	c.(2224-2226)Cgc>Tgc	p.R742C	ITGB3_ENST00000435993.2_Silent_p.F706F|RP11-290H9.4_ENST00000575039.1_RNA|ITGB3_ENST00000559488.1_Silent_p.F753F			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GAAAAGAATTCGCTAAATTTG	0.517000													10	114					0	0	0.080935	0	0
TRPC7	57113	broad.mit.edu	37	5	135610372	135610372	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:135610372G>T	ENST00000513104.1	-	4	1399	c.1117C>A	c.(1117-1119)Ccg>Acg	p.P373T	TRPC7_ENST00000355180.3_Missense_Mutation_p.P312T|TRPC7_ENST00000426057.2_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	373					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGCTGCACGGAGCAATCCAA	0.458000													6	54					0.00116845	0.00124859	0.021553	1	0
TBC1D3F	84218	broad.mit.edu	37	17	36288232	36288232	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:36288232C>A	ENST00000539424.1	+	2	1743	c.78C>A	c.(76-78)atC>atA	p.I26I	TBC1D3F_ENST00000505415.1_Silent_p.I106I|TBC1D3F_ENST00000327454.6_Silent_p.I106I|TBC1D3F_ENST00000378174.5_Silent_p.I106I			A6NER0	TBC3F_HUMAN	TBC1 domain family, member 3F	106						intracellular	Rab GTPase activator activity			liver(1)|pancreas(1)	2						CCATGAACATCCGGGGCCCGA	0.557000													12	459					1.52009e-12	1.94446e-12	0.024245	1	0
TTN	7273	broad.mit.edu	37	2	179437530	179437530	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:179437530G>A	ENST00000589042.1	-	326	73553	c.73329C>T	c.(73327-73329)tgC>tgT	p.C24443C	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.C21875C|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.C15570C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.C15378C|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Silent_p.C22802C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.C15503C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22802							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)			TCAGGGTGCAGCAGGCCCTTA	0.502000													20	107					0	0	0.049695	0	0
ST7L	54879	broad.mit.edu	37	1	113126701	113126701	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:113126701A>T	ENST00000358039.4	-	7	1053	c.749T>A	c.(748-750)aTt>aAt	p.I250N	ST7L_ENST00000538187.1_Missense_Mutation_p.I194N|ST7L_ENST00000360743.4_Missense_Mutation_p.I250N|ST7L_ENST00000343210.7_Missense_Mutation_p.I250N|ST7L_ENST00000544629.1_Missense_Mutation_p.I185N|ST7L_ENST00000543570.1_Missense_Mutation_p.I233N|ST7L_ENST00000490067.1_Missense_Mutation_p.I233N|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000369666.1_Missense_Mutation_p.I233N|ST7L_ENST00000369668.2_Missense_Mutation_p.I250N|ST7L_ENST00000369669.1_Missense_Mutation_p.I67N	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	250					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCATCTACAATAGTTGTTGC	0.408000													17	28					0	0	0.038395	0	0
ALK	238	broad.mit.edu	37	2	29448340	29448340	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:29448340G>T	ENST00000389048.3	-	19	4065	c.3159C>A	c.(3157-3159)tcC>tcA	p.S1053S	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1053					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TCATGATGCCGGAGAAAGCCA	0.627000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				3	18					0.00024832	0.000270828	0.009096	1	0
ARAP1	116985	broad.mit.edu	37	11	72406623	72406623	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:72406623C>T	ENST00000359373.5	-	25	4322	c.3471G>A	c.(3469-3471)gtG>gtA	p.V1157V	ARAP1_ENST00000334211.8_Silent_p.V912V|ARAP1_ENST00000429686.1_Silent_p.V851V|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Silent_p.V917V|ARAP1_ENST00000393609.3_Silent_p.V1157V|ARAP1_ENST00000426523.1_Silent_p.V912V|ARAP1_ENST00000455638.2_Silent_p.V1157V			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1157					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CGCGCATCTTCACAATGGCAG	0.637000													4	31					0	0	0.009096	0	0
CFAP221	200373	broad.mit.edu	37	2	120388169	120388169	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:120388169G>A	ENST00000602047.1	+	19	2009	c.897G>A	c.(895-897)aaG>aaA	p.K299K	PCDP1_ENST00000413369.3_Silent_p.K585K			Q4G0U5	PCDP1_HUMAN		585						cilium	calmodulin binding					Colorectal(110;0.196)					ACAAAATTAAGAGATATCAGC	0.423000													11	80					0	0	0.069234	0	0
FBN2	2201	broad.mit.edu	37	5	127614423	127614423	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:127614423C>A	ENST00000508053.1	-	63	8223	c.7249G>T	c.(7249-7251)Ggc>Tgc	p.G2417C	FBN2_ENST00000262464.4_Missense_Mutation_p.G2417C			P35556	FBN2_HUMAN	fibrillin 2	2417	TB 9.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGGCCCCAGCCTCGCCCACCA	0.512000													4	43					0.000602214	0.000650567	0.014758	1	0
NIM1K	167359	broad.mit.edu	37	5	43280109	43280109	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:43280109C>G	ENST00000512796.1	+	4	2088	c.589C>G	c.(589-591)Ctg>Gtg	p.L197V	NIM1_ENST00000326035.2_Missense_Mutation_p.L197V			Q8IY84	NIM1_HUMAN		197	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										TCATAGAGATCTGAAAGCAGA	0.333000													4	58					0	0	0.009096	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423274	107423274	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:107423274G>T	ENST00000409382.3	-	6	2060	c.1450C>A	c.(1450-1452)Cca>Aca	p.P484T	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.P484T	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	484					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TAGAGTAGTGGGTGGTACGCC	0.607000													22	26					1.10923e-09	1.36919e-09	0.076483	1	0
EP300	2033	broad.mit.edu	37	22	41573857	41573857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:41573857C>T	ENST00000263253.7	+	31	7361	c.6142C>T	c.(6142-6144)Caa>Taa	p.Q2048*	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2048	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CACTGTGTCTCAACAAGCCTT	0.542000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				11	224					0	0	0.093190	0	0
PITRM1	10531	broad.mit.edu	37	10	3197873	3197873	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:3197873G>A	ENST00000380989.2	-	14	1569	c.1531C>T	c.(1531-1533)Cac>Tac	p.H511Y	PITRM1_ENST00000451104.2_Missense_Mutation_p.H479Y|PITRM1_ENST00000380994.1_Missense_Mutation_p.H69Y|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000224949.4_Missense_Mutation_p.H511Y	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	479					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TGCTTCTCGTGATACTTGTCA	0.493000													7	66					0	0	0.029380	0	0
PKD1L1	168507	broad.mit.edu	37	7	47944214	47944214	+	Splice_Site	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:47944214C>A	ENST00000289672.2	-	12	1742	c.1691_splice	c.e12-1	p.W564_splice		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	564	PKD 1.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCACACGATACCTGCAGGATG	0.532000													13	19					6.31663e-08	7.5636e-08	0.024245	1	0
IQCC	55721	broad.mit.edu	37	1	32673606	32673606	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:32673606C>T	ENST00000537469.1	+	5	1611	c.1564C>T	c.(1564-1566)Ctg>Ttg	p.L522L	IQCC_ENST00000291358.6_Silent_p.L442L	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	442										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCTGAGATTCTGTCTTCTAC	0.502000													6	51					0	0	0.029380	0	0
KIAA1279	26128	broad.mit.edu	37	10	70776073	70776073	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:70776073C>T	ENST00000361983.4	+	7	1869	c.1767C>T	c.(1765-1767)gcC>gcT	p.A589A		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	589					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						ATCCTGAGGCCGCCCAGGAAA	0.388000													17	47					0	0	0.028581	0	0
KTN1	3895	broad.mit.edu	37	14	56138593	56138593	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:56138593C>G	ENST00000416613.1	+	36	3601	c.3529C>G	c.(3529-3531)Cag>Gag	p.Q1177E	KTN1_ENST00000555573.1_Missense_Mutation_p.Q182E|KTN1_ENST00000413890.2_Missense_Mutation_p.Q1154E|KTN1_ENST00000395311.1_Missense_Mutation_p.Q1154E|KTN1_ENST00000395309.3_Missense_Mutation_p.Q1177E|KTN1_ENST00000395308.1_Missense_Mutation_p.Q1154E|KTN1_ENST00000395314.3_Missense_Mutation_p.Q1177E|KTN1_ENST00000554507.1_Missense_Mutation_p.Q443E|KTN1_ENST00000438792.2_Missense_Mutation_p.Q1148E			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1177					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GACTATTAAACAGGTATTTAC	0.418000			T	RET	papillary thryoid								5	31					0	0	0.014758	0	0
KRT40	125115	broad.mit.edu	37	17	39138624	39138624	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:39138624C>T	ENST00000377755.4	-	3	656	c.622G>A	c.(622-624)Gat>Aat	p.D208N	KRT40_ENST00000398486.2_Missense_Mutation_p.D208N			Q6A162	K1C40_HUMAN	keratin 40	208	Coil 1B.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GCCTCCAGATCAGATTTGCAC	0.517000													9	133					0	0	0.069234	0	0
DCHS2	54798	broad.mit.edu	37	4	155250833	155250833	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:155250833G>T	ENST00000357232.3	-	11	2394	c.2395C>A	c.(2395-2397)Cgt>Agt	p.R799S	DCHS2_ENST00000339452.1_Missense_Mutation_p.R1254S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	799	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CGGTGCTCACGATCCAGTGCC	0.562000													7	19					7.48243e-07	8.77496e-07	0.058154	1	0
SUGT1P3	283507	broad.mit.edu	37	13	41486624	41486624	+	RNA	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:41486624C>G	ENST00000304932.4	-	0	449					NR_003365.2																						AGTCCAAGCTCAACAAAAAGA	0.318000													3	29					0	0	0.004672	0	0
SALL1	6299	broad.mit.edu	37	16	51173419	51173419	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:51173419A>T	ENST00000440970.1	-	2	2854	c.2423T>A	c.(2422-2424)gTg>gAg	p.V808E	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.V905E	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	905					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTCACCACCCACTGAGGATGA	0.567000													25	50					0	0	0.099896	0	0
USP28	57646	broad.mit.edu	37	11	113679905	113679905	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:113679905G>A	ENST00000003302.4	-	17	2112	c.2044C>T	c.(2044-2046)Cag>Tag	p.Q682*	USP28_ENST00000260188.5_Nonsense_Mutation_p.Q682*|USP28_ENST00000544967.1_Nonsense_Mutation_p.Q390*|USP28_ENST00000545540.1_Nonsense_Mutation_p.Q557*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	682					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TTATCCTCCTGAATGTAATGC	0.463000													25	273					0	0	0.108266	0	0
TTN	7273	broad.mit.edu	37	2	179611124	179611124	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:179611124C>A	ENST00000360870.5	-	46	16225	c.16003G>T	c.(16003-16005)Gaa>Taa	p.E5335*	TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8847	Ig-like 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAGTAAATTCGGGAACTGTC	0.358000													15	46					0.000308642	0.000335136	0.024245	1	0
OR51G1	79324	broad.mit.edu	37	11	4944805	4944805	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:4944805G>T	ENST00000321961.2	-	1	832	c.765C>A	c.(763-765)atC>atA	p.I255I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAATCATGGGGATGTAGAAGA	0.532000													14	30					5.3912e-06	6.1424e-06	0.038395	1	0
BCL6	604	broad.mit.edu	37	3	187446181	187446181	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:187446181C>T	ENST00000406870.2	-	6	1873	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	BCL6_ENST00000232014.4_Missense_Mutation_p.E503K|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.E503K|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	503					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GACTGGGTCTCTCCCATCTCC	0.592000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								4	11					0	0	0.021553	0	0
SYPL2	284612	broad.mit.edu	37	1	110022119	110022119	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:110022119G>A	ENST00000369872.3	+	6	984	c.768G>A	c.(766-768)caG>caA	p.Q256Q	SYPL2_ENST00000401021.3_Silent_p.Q192Q	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	256						integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		accagggccaggGTCCCAGCC	0.627000													13	53					0	0	0.093190	0	0
SLC4A8	9498	broad.mit.edu	37	12	51845937	51845937	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:51845937C>G	ENST00000453097.2	+	4	524	c.307C>G	c.(307-309)Ctt>Gtt	p.L103V	SLC4A8_ENST00000394856.1_Missense_Mutation_p.L50V|SLC4A8_ENST00000535225.2_Missense_Mutation_p.L50V|SLC4A8_ENST00000358657.3_Missense_Mutation_p.L130V|SLC4A8_ENST00000514353.3_Missense_Mutation_p.L50V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	103					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCAGTTCATTCTTGGCACCGA	0.453000													25	280					0	0	0.091800	0	0
CACNG5	27091	broad.mit.edu	37	17	64881106	64881106	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:64881106G>C	ENST00000533854.1	+	6	814	c.577G>C	c.(577-579)Ggg>Cgg	p.G193R	CACNG5_ENST00000307139.3_Missense_Mutation_p.G193R			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	193				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GTAGAGTGCCGGGGTGATGTC	0.622000													13	73					0	0	0.028581	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102498629	102498629	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:102498629C>T	ENST00000360184.4	+	52	10068	c.9904C>T	c.(9904-9906)Cag>Tag	p.Q3302*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3302	Stalk (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GATCAAGAAGCAGCACCTGGT	0.572000													6	129					0	0	0.038147	0	0
PARP4	143	broad.mit.edu	37	13	25075884	25075884	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:25075884G>C	ENST00000381989.3	-	3	326	c.221C>G	c.(220-222)cCa>cGa	p.P74R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	74	BRCT.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TATAAAATCTGGGTTTGCAAT	0.373000													12	50					0	0	0.093190	0	0
AMELY	266	broad.mit.edu	37	Y	6736466	6736466	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrY:6736466A>T	ENST00000215479.5	-	5	252	c.185T>A	c.(184-186)cTg>cAg	p.L62Q	AMELY_ENST00000383037.4_Missense_Mutation_p.L76Q|AMELY_ENST00000383036.1_Missense_Mutation_p.L76Q	NM_001143.1	NP_001134.1	Q99218	AMELY_HUMAN	amelogenin, Y-linked	76					biomineral tissue development	proteinaceous extracellular matrix	structural constituent of tooth enamel			NS(1)|lung(5)	6						TTGGTGGTGCAGCCATCCACC	0.567000													36	23					0	0	0.074837	0	0
SPTA1	6708	broad.mit.edu	37	1	158631133	158631133	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:158631133C>T	ENST00000368148.3	-	18	2711	c.2531G>A	c.(2530-2532)aGc>aAc	p.S844N	SPTA1_ENST00000368147.3_Missense_Mutation_p.S844N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	844					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			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)					TGGTTCATGGCTGGCAATGTT	0.423000													25	125					0	0	0.083992	0	0
DOPEY2	9980	broad.mit.edu	37	21	37649349	37649349	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr21:37649349C>T	ENST00000399151.3	+	28	5748	c.5663C>T	c.(5662-5664)tCa>tTa	p.S1888L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1888					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ATGGTGTCTTCATCCGCCCCG	0.507000													12	177					0	0	0.028581	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68244283	68244283	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:68244283C>T	ENST00000347230.4	-	25	5105	c.4967G>A	c.(4966-4968)gGa>gAa	p.G1656E	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.G1656E	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1656					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TACCTTGGATCCCACATACAG	0.527000													8	101					0	0	0.069234	0	0
KCNQ2	3785	broad.mit.edu	37	20	62046310	62046310	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:62046310G>T	ENST00000354587.3	-	11	1563	c.1387C>A	c.(1387-1389)Cgg>Agg	p.R463R	KCNQ2_ENST00000344462.3_Silent_p.R451R|KCNQ2_ENST00000360480.3_Silent_p.R463R|KCNQ2_ENST00000370222.3_Silent_p.R463R|KCNQ2_ENST00000359125.2_Silent_p.R491R|KCNQ2_ENST00000430658.1_Silent_p.R461R|KCNQ2_ENST00000370226.1_Silent_p.R461R|KCNQ2_ENST00000370224.1_Silent_p.R463R|KCNQ2_ENST00000357249.2_Silent_p.R473R|KCNQ2_ENST00000359689.1_Silent_p.R491R			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	491					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TGGCGTGCCCGGCTGCGGTCC	0.687000													9	13					2.17888e-05	2.43193e-05	0.058154	1	0
CDH12	1010	broad.mit.edu	37	5	21752318	21752318	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:21752318C>T	ENST00000382254.1	-	15	2999	c.1913G>A	c.(1912-1914)cGa>cAa	p.R638Q	CDH12_ENST00000522262.1_Missense_Mutation_p.R598Q|CDH12_ENST00000504376.2_Missense_Mutation_p.R638Q|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	638					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CTTCTGCCTTCGCAGTGCTAC	0.403000										HNSCC(59;0.17)			12	83					0	0	0.020292	0	0
GPAT2	150763	broad.mit.edu	37	2	96690296	96690296	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:96690296C>T	ENST00000434632.1	-	16	2007	c.1548G>A	c.(1546-1548)gtG>gtA	p.V516V	GPAT2_ENST00000453542.1_Silent_p.V445V|GPAT2_ENST00000359548.4_Silent_p.V516V|GPAT2_ENST00000377137.3_Silent_p.V516V			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	516					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GCAGCAGGGCCACGTGCGCCC	0.652000													14	40					0	0	0.038395	0	0
COBLL1	22837	broad.mit.edu	37	2	165584537	165584537	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:165584537C>G	ENST00000375458.2	-	4	824	c.603G>C	c.(601-603)ttG>ttC	p.L201F	COBLL1_ENST00000409184.3_Missense_Mutation_p.L239F|COBLL1_ENST00000194871.6_Missense_Mutation_p.L254F|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000392717.2_Missense_Mutation_p.L239F|COBLL1_ENST00000342193.4_Missense_Mutation_p.L201F	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	239										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GAGATTTTGTCAAGTCAAGAG	0.368000													6	116					0	0	0.029380	0	0
OR2W5	441932	broad.mit.edu	37	1	247655069	247655069	+	RNA	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:247655069C>A	ENST00000522351.1	+	0	700							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H214Y(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CGCTCTCCCTCATCCTCATCT	0.567000													37	125					3.21399e-22	4.32822e-22	0.074837	1	0
PTCD3	55037	broad.mit.edu	37	2	86333332	86333332	+	Translation_Start_Site	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:86333332A>T	ENST00000254630.7	+	0	28					NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3							mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						CTGAAGGTCGAGGCACGCTTT	0.582000													16	20					0	0	0.038395	0	0
RBM23	55147	broad.mit.edu	37	14	23374637	23374637	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:23374637C>G	ENST00000359890.3	-	7	676	c.481G>C	c.(481-483)Gag>Cag	p.E161Q	RBM23_ENST00000346528.5_Missense_Mutation_p.E127Q|RBM23_ENST00000399922.2_Missense_Mutation_p.E145Q|RBM23_ENST00000542016.2_5'UTR|RBM23_ENST00000555209.1_5'UTR	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	161					mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TCACGCTCCTCAGGACTCAGA	0.502000													41	171					0	0	0.048971	0	0
PRNP	5621	broad.mit.edu	37	20	4680497	4680497	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:4680497G>C	ENST00000379440.4	+	2	918	c.631G>C	c.(631-633)Gag>Cag	p.E211Q	PRNP_ENST00000430350.2_Missense_Mutation_p.E211Q	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	211	Interaction with GRB2, ERI3 and SYN1 (By similarity).		E -> Q (in CJD).		axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	GCGCGTGGTTGAGCAGATGTG	0.532000													11	43					0	0	0.069234	0	0
HM13	81502	broad.mit.edu	37	20	30142619	30142619	+	Silent	SNP	T	T	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:30142619T>C	ENST00000335574.5	+	8	919	c.795T>C	c.(793-795)gaT>gaC	p.D265D	HM13_ENST00000340852.5_Silent_p.D265D|HM13_ENST00000398174.3_Silent_p.D265D|HM13_ENST00000376127.3_Silent_p.D223D|HM13_ENST00000492709.1_3'UTR	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	265					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GACTTGGAGATGTCGTCATTC	0.557000													7	62					0	0	0.080935	0	0
CR1L	1379	broad.mit.edu	37	1	207851643	207851643	+	Splice_Site	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:207851643G>T	ENST00000508064.2	+	3	437		c.e3+1		CR1L_ENST00000530905.1_Splice_Site	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like							cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GTCCTAAAGGGTGAGTTGGCA	0.408000													22	57					4.35082e-09	5.33489e-09	0.055883	1	0
AFP	174	broad.mit.edu	37	4	74315756	74315756	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:74315756G>A	ENST00000395792.2	+	10	1295	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	AFP_ENST00000226359.2_Missense_Mutation_p.E399K	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	399	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTTCAGGAAGAAGAATTACA	0.313000									Alpha-Fetoprotein, Hereditary Persistence of				3	31					0	0	0.004672	0	0
GPR6	2830	broad.mit.edu	37	6	110301280	110301280	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:110301280C>A	ENST00000414000.2	+	3	1249	c.1010C>A	c.(1009-1011)tCc>tAc	p.S337Y	GPR6_ENST00000275169.3_Missense_Mutation_p.S322Y			P46095	GPR6_HUMAN	G protein-coupled receptor 6	322						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ACCTACAACTCCATGATCAAT	0.612000													16	70					1.15088e-07	1.37031e-07	0.028581	1	0
QRSL1	55278	broad.mit.edu	37	6	107110970	107110970	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:107110970G>A	ENST00000369046.4	+	10	1380	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K		NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	426					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		CACCTTGAGTGAGGCAGTACC	0.428000													3	38					0	0	0.009096	0	0
SEZ6L	23544	broad.mit.edu	37	22	26747131	26747131	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:26747131G>C	ENST00000529632.2	+	12	2717	c.2521G>C	c.(2521-2523)Gaa>Caa	p.E841Q	SEZ6L_ENST00000404234.3_Missense_Mutation_p.E841Q|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000248933.6_Missense_Mutation_p.E841Q|SEZ6L_ENST00000411842.2_Missense_Mutation_p.E38Q|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E841Q|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E614Q|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E614Q	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	841	Sushi 4.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TTTTGTGCTTGAAGGGAGTTC	0.557000													3	43					0	0	0.009096	0	0
OR6F1	343169	broad.mit.edu	37	1	247875436	247875436	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:247875436G>A	ENST00000302084.2	-	1	669	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CATGAACTCAGGATAACCACA	0.532000													34	126					0	0	0.064281	0	0
TTLL9	164395	broad.mit.edu	37	20	30521613	30521613	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:30521613C>T	ENST00000375934.4	+	9	716	c.662C>T	c.(661-663)tCa>tTa	p.S221L	TTLL9_ENST00000375921.2_Silent_p.L195L|TTLL9_ENST00000375938.4_Silent_p.L253L|TTLL9_ENST00000535842.1_Silent_p.L253L|TTLL9_ENST00000310998.4_Silent_p.L218L|TTLL9_ENST00000375922.4_Silent_p.L195L			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	0	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATGTTCACCTCACCAACGTGG	0.577000													16	60					0	0	0.038395	0	0
GNA13	10672	broad.mit.edu	37	17	63014378	63014378	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:63014378C>A	ENST00000439174.2	-	3	799	c.554G>T	c.(553-555)gGa>gTa	p.G185V	GNA13_ENST00000541118.1_Missense_Mutation_p.G90V	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	185					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						TACTGGTTCTCCAAGTTTATC	0.299000													4	57					0.00909568	0.00950678	0.009096	1	0
ZNF831	128611	broad.mit.edu	37	20	57829709	57829709	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:57829709A>T	ENST00000371030.2	+	5	4945	c.4945A>T	c.(4945-4947)Agg>Tgg	p.R1649W		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1649						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCTCAAGAAGAGGAGTCTGGA	0.448000													13	130					0	0	0.093190	0	0
HEATR6	63897	broad.mit.edu	37	17	58134512	58134512	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:58134512G>A	ENST00000184956.6	-	12	1992	c.1976C>T	c.(1975-1977)tCc>tTc	p.S659F	HEATR6_ENST00000585976.1_Missense_Mutation_p.S659F	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	659							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TACGACAATGGAAATGCAGAG	0.557000													10	153					0	0	0.069234	0	0
IL27	246778	broad.mit.edu	37	16	28513453	28513453	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:28513453G>T	ENST00000356897.1	-	4	328	c.306C>A	c.(304-306)gaC>gaA	p.D102E		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	102					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						GACGCTCCGGGTCCTGAAGGG	0.632000													4	18					0.00909568	0.00950678	0.009096	1	0
COG3	83548	broad.mit.edu	37	13	46083856	46083856	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:46083856C>T	ENST00000349995.5	+	15	1736	c.1624C>T	c.(1624-1626)Cag>Tag	p.Q542*	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	542					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TCCTAGACCACAGACCACAAT	0.398000													20	203					0	0	0.069288	0	0
RRAGD	58528	broad.mit.edu	37	6	90077868	90077868	+	Silent	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:90077868C>G	ENST00000369415.4	-	7	1386	c.1110G>C	c.(1108-1110)gtG>gtC	p.V370V	RRAGD_ENST00000359203.2_Silent_p.V219V	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	370					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CTTTCATTCTCACCTCAAAAA	0.408000											OREG0017566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	77					0	0	0.014758	0	0
TMEM68	137695	broad.mit.edu	37	8	56675493	56675493	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:56675493C>A	ENST00000434581.2	-	3	225	c.26G>T	c.(25-27)gGt>gTt	p.G9V	TMEM68_ENST00000522576.1_Missense_Mutation_p.G9V|TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000334667.2_Missense_Mutation_p.G9V|TMEM68_ENST00000521229.1_Missense_Mutation_p.G9V			Q96MH6	TMM68_HUMAN	transmembrane protein 68	9						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			CTGTCCTACACCACAGGTTTG	0.378000													14	60					0.00244969	0.00260643	0.020292	1	0
KLK4	9622	broad.mit.edu	37	19	51411879	51411879	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:51411879G>T	ENST00000324041.1	-	3	430	c.431C>A	c.(430-432)gCg>gAg	p.A144E	KLK4_ENST00000431178.2_Missense_Mutation_p.A95E	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	144	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		AGAGTTCCCCGCGGTAGGGCA	0.607000													41	53					2.59497e-14	3.36596e-14	0.098360	1	0
IGHV1-2	28474	broad.mit.edu	37	14	106452740	106452740	+	RNA	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:106452740G>T	ENST00000390594.2	-	0	345																											CTGTGCTGATGGACGTGTCCC	0.542000													40	114					2.05212e-20	2.73124e-20	0.080422	1	0
ZNF692	55657	broad.mit.edu	37	1	249149986	249149986	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:249149986G>A	ENST00000451251.1	-	7	1179	c.834C>T	c.(832-834)gtC>gtT	p.V278V	ZNF692_ENST00000366471.3_Silent_p.V228V|ZNF692_ENST00000306601.4_Silent_p.V273V|ZNF692_ENST00000366469.5_Silent_p.V272V|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000427146.1_Silent_p.V228V	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCTGCACCCTGACTTCTGCAG	0.632000													5	44					0	0	0.021553	0	0
LUZP4	51213	broad.mit.edu	37	X	114541031	114541031	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:114541031G>C	ENST00000371920.3	+	4	611	c.604G>C	c.(604-606)Gag>Cag	p.E202Q	LUZP4_ENST00000451986.2_Missense_Mutation_p.E120Q	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	202						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						TGGTCAATCTGAGAGATCTCA	0.458000													18	88					0	0	0.038395	0	0
USP34	9736	broad.mit.edu	37	2	61632995	61632995	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:61632995G>C	ENST00000398571.2	-	3	476	c.400C>G	c.(400-402)Ctg>Gtg	p.L134V		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	134					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCCTCAGTCAGATTACAAATT	0.318000													10	83					0	0	0.069234	0	0
OR5B2	390190	broad.mit.edu	37	11	58190687	58190687	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:58190687G>T	ENST00000302581.2	-	1	99	c.48C>A	c.(46-48)acC>acA	p.T16T		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGGGACACTGGTTAGTCCTA	0.428000													37	192					4.07013e-28	5.57243e-28	0.104719	1	0
TSGA10IP	254187	broad.mit.edu	37	11	65721175	65721175	+	RNA	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:65721175C>T	ENST00000532620.1	+	0	1520							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						AGCCGGGGCCCTGGGGCGGCC	0.721000													3	3					0	0	0.004672	0	0
CD80	941	broad.mit.edu	37	3	119263473	119263473	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:119263473G>T	ENST00000264246.3	-	3	704	c.342C>A	c.(340-342)taC>taA	p.Y114*	CD80_ENST00000478182.1_Nonsense_Mutation_p.Y114*|CD80_ENST00000383668.3_Nonsense_Mutation_p.Y114*|CD80_ENST00000383669.3_Nonsense_Mutation_p.Y114*	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	114	Ig-like V-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	CAACACACTCGTATGTGCCCT	0.458000													19	142					1.64113e-05	1.83589e-05	0.055883	1	0
UBE2D4	51619	broad.mit.edu	37	7	43988301	43988301	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:43988301G>A	ENST00000222402.2	+	5	358	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	POLR2J4_ENST00000427076.1_RNA|UBE2D4_ENST00000394798.4_Missense_Mutation_p.R52Q|UBE2D4_ENST00000446008.1_Missense_Mutation_p.R90Q	NM_015983.3	NP_057067.1	Q9Y2X8	UB2D4_HUMAN	ubiquitin-conjugating enzyme E2D 4 (putative)	90					protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						GATATCCTGCGGTCTCAGTGG	0.458000													7	95					0	0	0.038147	0	0
POMT1	10585	broad.mit.edu	37	9	134382876	134382876	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:134382876G>T	ENST00000423007.1	+	5	844	c.402G>T	c.(400-402)atG>atT	p.M134I	POMT1_ENST00000372228.3_Missense_Mutation_p.M134I|POMT1_ENST00000402686.3_Missense_Mutation_p.M134I|POMT1_ENST00000419118.2_Intron|POMT1_ENST00000341012.7_Missense_Mutation_p.M80I|POMT1_ENST00000404875.2_Missense_Mutation_p.M17I|POMT1_ENST00000354713.4_Missense_Mutation_p.M104I|POMT1_ENST00000541219.1_Intron	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	134					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GTGCCGCCATGGGAGCTGCTC	0.597000													25	44					6.5261e-18	8.60841e-18	0.104719	1	0
OR1N2	138882	broad.mit.edu	37	9	125316159	125316159	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:125316159C>A	ENST00000373688.2	+	1	769	c.711C>A	c.(709-711)cgC>cgA	p.R237R		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	237			R -> C (in dbSNP:rs41316976).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CCTATGTCCGCATTTTCTGGG	0.512000													50	133					3.4597e-24	4.68468e-24	0.048971	1	0
ADCY8	114	broad.mit.edu	37	8	131896913	131896913	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:131896913T>A	ENST00000286355.5	-	8	4098	c.2006A>T	c.(2005-2007)aAg>aTg	p.K669M	ADCY8_ENST00000377928.3_Missense_Mutation_p.K669M	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	669					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTCTATTCTCTTGTTAATTTC	0.448000										HNSCC(32;0.087)			10	121					0	0	0.058154	0	0
MNDA	4332	broad.mit.edu	37	1	158813749	158813749	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:158813749G>C	ENST00000368141.4	+	4	668	c.407G>C	c.(406-408)aGa>aCa	p.R136T		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	136					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TTTCAGAAAAGAAAAACTCCA	0.378000													19	280					0	0	0.055883	0	0
ZNF23	7571	broad.mit.edu	37	16	71482621	71482621	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:71482621C>T	ENST00000393539.2	-	6	2120	c.1307G>A	c.(1306-1308)cGg>cAg	p.R436Q	RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000564528.1_Missense_Mutation_p.R378Q|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.R436Q|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.R436Q|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.R378Q|ZNF23_ENST00000497160.1_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R436Q(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		CAGATGCTGCCGAAATTGGGA	0.458000													27	83					0	0	0.108266	0	0
OR4E2	26686	broad.mit.edu	37	14	22133668	22133668	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:22133668G>T	ENST00000408935.1	+	1	372	c.372G>T	c.(370-372)gtG>gtT	p.V124V		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		ATCGTTACGTGGCTATCTGCA	0.478000													67	216					3.8128e-34	5.26394e-34	0.048971	1	0
CACNA1A	773	broad.mit.edu	37	19	13387897	13387897	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:13387897C>G	ENST00000360228.5	-	23	3867	c.3868G>C	c.(3868-3870)Gag>Cag	p.E1290Q	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E1291Q	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1291					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ATCACCATCTCAAAGGTAAAG	0.453000											OREG0025295	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	52					0	0	0.021553	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430931	37430931	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:37430931C>A	ENST00000374660.1	+	7	1037	c.938C>A	c.(937-939)tCt>tAt	p.S313Y	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.S313Y|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S313Y			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	369						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			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						AAAGAAACATCTGAGAAATTT	0.418000													26	122					3.69857e-22	4.97625e-22	0.037714	1	0
TOR1A	1861	broad.mit.edu	37	9	132576319	132576319	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:132576319C>G	ENST00000351698.4	-	5	979	c.931G>C	c.(931-933)Gag>Cag	p.E311Q		NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	311					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				AAAACTCTCTCCTCTTTGGGG	0.438000													10	87					0	0	0.058154	0	0
CCNA2	890	broad.mit.edu	37	4	122741833	122741833	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:122741833C>T	ENST00000274026.5	-	4	961	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K		NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN	cyclin A2	220					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TCTCCTACTTCAACTAACCAG	0.398000													9	57					0	0	0.047766	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143780	61143780	+	RNA	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:61143780C>A	ENST00000475015.1	-	0	558				C20orf166-AS1_ENST00000412495.1_RNA																							CTCCTGCGTCCGCCCTCCGCT	0.667000													7	38					2.74318e-10	3.42031e-10	0.058154	1	0
CHI3L1	1116	broad.mit.edu	37	1	203151968	203151968	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:203151968C>A	ENST00000255409.3	-	6	603	c.478G>T	c.(478-480)Gaa>Taa	p.E160*		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	160					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TTTATAAATTCGGCCTTCATT	0.547000													13	30					3.27435e-08	3.94629e-08	0.020292	1	0
CLSTN2	64084	broad.mit.edu	37	3	140122473	140122473	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:140122473G>A	ENST00000458420.3	+	3	425	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	79	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TTCTGCAGGGGAAATCTGTGC	0.532000										HNSCC(16;0.037)			16	362					0	0	0.024245	0	0
ZNF223	7766	broad.mit.edu	37	19	44570937	44570937	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:44570937G>T	ENST00000591793.1	+	7	1369	c.1286G>T	c.(1285-1287)gGg>gTg	p.G429V	ZNF223_ENST00000434772.3_Missense_Mutation_p.G319V			Q9UK11	ZN223_HUMAN	zinc finger protein 223	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				AACAGCACTGGGGAATATGGA	0.428000													69	120					9.39563e-20	1.24713e-19	0.048971	1	0
MMP16	4325	broad.mit.edu	37	8	89180029	89180029	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:89180029T>A	ENST00000286614.6	-	4	859	c.578A>T	c.(577-579)cAt>cTt	p.H193L	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	193					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GCTGTCCCCATGGAAACCAGA	0.438000													10	56					0	0	0.069234	0	0
NLRP5	126206	broad.mit.edu	37	19	56539841	56539841	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:56539841G>A	ENST00000390649.3	+	7	2242	c.2242G>A	c.(2242-2244)Gag>Aag	p.E748K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	748						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCCAAGAGATGAGTCCGCTGA	0.517000													9	167					0	0	0.047766	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32410341	32410341	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:32410341G>A	ENST00000395388.2	+	2	308	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.V67I	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	67	Alpha-1.			V -> A (in Ref. 11; AA sequence).	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						GAAGGAGACGGTCTGGCGGCT	0.468000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				24	109					0	0	0.045705	0	0
GTF2E1	2960	broad.mit.edu	37	3	120469615	120469615	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:120469615C>G	ENST00000283875.5	+	2	309	c.216C>G	c.(214-216)atC>atG	p.I72M		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	72	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		ACAAGTTTATCAAATGCAGAA	0.403000													27	182					0	0	0.108266	0	0
MATR3	9782	broad.mit.edu	37	5	138655116	138655116	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:138655116G>C	ENST00000394800.2	+	13	2077	c.1528G>C	c.(1528-1530)Gat>Cat	p.D510H	MATR3_ENST00000503811.1_Missense_Mutation_p.D222H|MATR3_ENST00000510056.1_Missense_Mutation_p.D510H|MATR3_ENST00000394805.3_Missense_Mutation_p.D510H|MATR3_ENST00000361059.2_Missense_Mutation_p.D510H|MATR3_ENST00000509990.1_Missense_Mutation_p.D510H|MATR3_ENST00000502929.1_Missense_Mutation_p.D510H|MATR3_ENST00000504203.1_Missense_Mutation_p.D172H|MATR3_ENST00000502499.1_Missense_Mutation_p.D172H			P43243	MATR3_HUMAN	matrin 3	510	RRM 2.					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGGCTATTCTGATAGTGCTGT	0.378000													4	65					0	0	0.009096	0	0
ATG2B	55102	broad.mit.edu	37	14	96775859	96775859	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:96775859G>A	ENST00000359933.4	-	29	5127	c.4234C>T	c.(4234-4236)Ctg>Ttg	p.L1412L	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1412										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCACTCATCAGATCTCGTAAC	0.448000													4	71					0	0	0.014758	0	0
MYO1E	4643	broad.mit.edu	37	15	59480399	59480399	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:59480399C>A	ENST00000288235.4	-	18	2221	c.1822G>T	c.(1822-1824)Gaa>Taa	p.E608*		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	608	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	p.E608K(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CCCAAATATTCGACTTGATGC	0.473000													25	53					7.38237e-10	9.14302e-10	0.030593	1	0
ZFHX3	463	broad.mit.edu	37	16	72831467	72831467	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:72831467G>A	ENST00000268489.5	-	9	5786	c.5114C>T	c.(5113-5115)tCa>tTa	p.S1705L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S791L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1705					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTGGGCTCTGAAGGGGAAGC	0.507000													11	107					0	0	0.069234	0	0
MUC16	94025	broad.mit.edu	37	19	9017374	9017374	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:9017374G>T	ENST00000397910.4	-	26	38153	c.37950C>A	c.(37948-37950)acC>acA	p.T12650T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12652	SEA 4.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T12650T(1)		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						TCCTGTCCAGGGTGTAGGGGC	0.572000													129	496					8.8899e-71	1.24358e-70	0.048971	1	0
APOH	350	broad.mit.edu	37	17	64216781	64216781	+	Silent	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:64216781G>C	ENST00000205948.6	-	5	532	c.495C>G	c.(493-495)ctC>ctG	p.L165L		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	165	Sushi 3.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TGTCCCGATAGAGGGAATTGT	0.423000													20	63					0	0	0.083992	0	0
JAM2	58494	broad.mit.edu	37	21	27071166	27071166	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr21:27071166C>A	ENST00000480456.1	+	5	1122	c.572C>A	c.(571-573)aCa>aAa	p.T191K	JAM2_ENST00000400532.1_Missense_Mutation_p.T191K|JAM2_ENST00000425221.2_Missense_Mutation_p.T155K|JAM2_ENST00000312957.5_Missense_Mutation_p.T191K	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	191	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGCTCATACACAATGAATACA	0.383000													17	71					1.01871e-10	1.27555e-10	0.049695	1	0
TMEM132D	121256	broad.mit.edu	37	12	129563096	129563096	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:129563096G>T	ENST00000422113.2	-	8	2424	c.2098C>A	c.(2098-2100)Ctg>Atg	p.L700M	TMEM132D_ENST00000389441.4_Missense_Mutation_p.L238M	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	700						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGCCTCTGCAGAAGTTCCTGA	0.607000													5	94					0.00116845	0.00124859	0.021553	1	0
APCDD1	147495	broad.mit.edu	37	18	10471851	10471851	+	Silent	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr18:10471851C>G	ENST00000355285.4	+	3	921	c.567C>G	c.(565-567)ctC>ctG	p.L189L	APCDD1_ENST00000584596.1_3'UTR|APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	189					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		CCTATGACCTCTGGCGAGAGG	0.627000													5	63					0	0	0.058154	0	0
ASAP1	50807	broad.mit.edu	37	8	131073091	131073091	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:131073091G>A	ENST00000357668.1	-	27	2953	c.2926C>T	c.(2926-2928)Caa>Taa	p.Q976*	ASAP1_ENST00000518721.1_Nonsense_Mutation_p.Q976*			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	976	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCTGAGAGTTGGGGTTTGGGT	0.587000													19	97					0	0	0.043863	0	0
OR11H4	390442	broad.mit.edu	37	14	20711796	20711796	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:20711796G>T	ENST00000315409.2	+	1	899	c.846G>T	c.(844-846)aaG>aaT	p.K282N		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TATTGCAGAAGATCCTCACAC	0.398000													19	125					2.70639e-06	3.12682e-06	0.069288	1	0
RIMS2	9699	broad.mit.edu	37	8	105105841	105105841	+	Nonsense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:105105841C>G	ENST00000436393.2	+	21	3105	c.2864C>G	c.(2863-2865)tCa>tGa	p.S955*	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	409					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCTGTCCAATCAGAACGCCCA	0.403000										HNSCC(12;0.0054)			5	73					0	0	0.014758	0	0
MYO18B	84700	broad.mit.edu	37	22	26177728	26177728	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:26177728G>T	ENST00000335473.7	+	10	2489	c.2239G>T	c.(2239-2241)Gca>Tca	p.A747S	MYO18B_ENST00000407587.2_Missense_Mutation_p.A747S|MYO18B_ENST00000536101.1_Missense_Mutation_p.A747S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	747	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAGCCGCGTGGCACGGCAGCC	0.562000													4	4					0.00448238	0.00473852	0.047766	1	0
SPHKAP	80309	broad.mit.edu	37	2	228882499	228882499	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:228882499T>A	ENST00000392056.3	-	7	3117	c.3071A>T	c.(3070-3072)gAg>gTg	p.E1024V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1024V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1024						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTCATGGACTCATCCACAAC	0.498000													8	44					0	0	0.047766	0	0
IMPG1	3617	broad.mit.edu	37	6	76715146	76715146	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:76715146T>A	ENST00000369950.3	-	10	1182	c.993A>T	c.(991-993)gaA>gaT	p.E331D	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	331	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CTTCCTCACTTTCAATTTTGT	0.458000													10	59					0	0	0.058154	0	0
STK31	56164	broad.mit.edu	37	7	23811831	23811831	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:23811831G>A	ENST00000354639.3	+	15	2294	c.1830G>A	c.(1828-1830)aaG>aaA	p.K610K	STK31_ENST00000428484.1_Silent_p.K610K|STK31_ENST00000355870.3_Silent_p.K633K|STK31_ENST00000433467.2_Silent_p.K633K|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	633							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TATCCATTAAGAAGACATTGA	0.313000													3	45					0	0	0.004672	0	0
BRF2	55290	broad.mit.edu	37	8	37702165	37702165	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:37702165C>T	ENST00000220659.6	-	4	1223	c.1103G>A	c.(1102-1104)cGg>cAg	p.R368Q	GPR124_ENST00000315215.7_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	368					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			AGGGCAGATCCGCTTCGGGGA	0.537000													7	12					0	0	0.047766	0	0
SNX4	8723	broad.mit.edu	37	3	125188347	125188347	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:125188347C>T	ENST00000251775.4	-	9	829	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	SNX4_ENST00000536067.1_Missense_Mutation_p.E124K|SNX4_ENST00000473417.1_5'UTR	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	269					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						ATTTCTTTTTCTATGGCACTC	0.393000													6	94					0	0	0.038147	0	0
IMPG1	3617	broad.mit.edu	37	6	76731841	76731841	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:76731841G>C	ENST00000369950.3	-	6	847	c.658C>G	c.(658-660)Cct>Gct	p.P220A	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	220					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ACTGTTGTAGGCATCTTGGTG	0.423000													5	16					0	0	0.021553	0	0
SCP2D1	140856	broad.mit.edu	37	20	18794670	18794670	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:18794670C>T	ENST00000377428.2	+	1	301	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1			SCP2 sterol-binding domain containing 1																		TGCCGTCTTTCAGCTGGACAT	0.498000													4	123					0	0	0.009096	0	0
LRFN2	57497	broad.mit.edu	37	6	40400140	40400140	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:40400140C>G	ENST00000338305.6	-	2	1255	c.713G>C	c.(712-714)aGt>aCt	p.S238T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	238						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACCCCCAAAACTAAAGGACAA	0.607000													4	14					0	0	0.029380	0	0
PGBD4	161779	broad.mit.edu	37	15	34396158	34396158	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:34396158C>G	ENST00000397766.2	+	1	1885	c.1426C>G	c.(1426-1428)Cct>Gct	p.P476A		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	476										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		GAAGGATAATCCTGAGCACAC	0.433000													5	34					0	0	0.014758	0	0
CACNA1E	777	broad.mit.edu	37	1	181727929	181727929	+	Silent	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:181727929G>C	ENST00000526775.1	+	31	4638	c.4473G>C	c.(4471-4473)ctG>ctC	p.L1491L	CACNA1E_ENST00000357570.5_Silent_p.L1461L|CACNA1E_ENST00000358338.5_Silent_p.L1442L|CACNA1E_ENST00000367567.4_Silent_p.L1117L|CACNA1E_ENST00000360108.3_Silent_p.L1491L|CACNA1E_ENST00000367570.1_Silent_p.L1510L|CACNA1E_ENST00000367573.2_Silent_p.L1510L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1510					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGCTGGCCCTGAAGTACCTGA	0.458000													43	68					0	0	0.045515	0	0
NPHS2	7827	broad.mit.edu	37	1	179526197	179526197	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:179526197G>A	ENST00000367615.4	-	5	771	c.703C>T	c.(703-705)Ctt>Ttt	p.L235F	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	235					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CTCTCTAGAAGAATTTCAGTG	0.393000													4	38					0	0	0.009096	0	0
LCT	3938	broad.mit.edu	37	2	136575241	136575241	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:136575241C>A	ENST00000264162.2	-	6	1387	c.1377G>T	c.(1375-1377)cgG>cgT	p.R459R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	459	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGGGGAAGATCCGGGACCAGG	0.622000													11	40					5.50884e-06	6.26197e-06	0.093190	1	0
GDF3	9573	broad.mit.edu	37	12	7848150	7848150	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:7848150C>T	ENST00000329913.3	-	1	222	c.175G>A	c.(175-177)Gag>Aag	p.E59K		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	59					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GCTGCTGCCTCGCGATCCTGG	0.507000													3	52					0	0	0.009096	0	0
RDH8	50700	broad.mit.edu	37	19	10124180	10124180	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:10124180G>A	ENST00000591589.1	+	1	256	c.67G>A	c.(67-69)Gct>Act	p.A23T	RDH8_ENST00000171214.1_Missense_Mutation_p.A3T			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	3					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CAACATGGCCGCTGCACCCCG	0.607000													3	17					0	0	0.004672	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140789008	140789008	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:140789008G>A	ENST00000520790.1	+	1	1239	c.1239G>A	c.(1237-1239)gaG>gaA	p.E413E	PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCGAGAGCAGACACCAG	0.458000													4	49					0	0	0.009096	0	0
MROH9	80133	broad.mit.edu	37	1	170965731	170965731	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:170965731G>A	ENST00000367759.4	+	14	1575	c.1421G>A	c.(1420-1422)tGg>tAg	p.W474*	MROH9_ENST00000367758.3_Nonsense_Mutation_p.W474*	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		GAGAATTTCTGGGACCAGTTA	0.443000													53	142					0	0	0.048971	0	0
ADCY7	113	broad.mit.edu	37	16	50324570	50324570	+	Splice_Site	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:50324570A>T	ENST00000394697.2	+	3	714	c.375_splice	c.e3+1	p.Q125_splice	ADCY7_ENST00000537579.1_Splice_Site_p.Q125_splice|ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000566433.2_Splice_Site_p.Q125_splice|ADCY7_ENST00000538642.1_Splice_Site_p.Q125_splice|ADCY7_ENST00000254235.3_Splice_Site_p.Q125_splice			P51828	ADCY7_HUMAN	adenylate cyclase 7	125					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GCGTGGGAGCAGGTAACAGGA	0.662000													9	5					0	0	0.058154	0	0
FAM135B	51059	broad.mit.edu	37	8	139165073	139165073	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:139165073G>T	ENST00000395297.1	-	13	1815	c.1645C>A	c.(1645-1647)Cca>Aca	p.P549T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	549										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTCAGCACTGGGGCCTGTCCA	0.507000										HNSCC(54;0.14)			6	80					0.0215528	0.0222597	0.021553	1	0
KIFC1	3833	broad.mit.edu	37	6	33372891	33372891	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:33372891G>T	ENST00000428849.2	+	7	1469	c.1019G>T	c.(1018-1020)gGg>gTg	p.G340V		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	340	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GGCCCTGGTGGGCCCTCTGAT	0.667000													19	94					7.45023e-12	9.44035e-12	0.055883	1	0
CLCN7	1186	broad.mit.edu	37	16	1510495	1510495	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:1510495G>A	ENST00000382745.4	-	6	1123	c.518C>T	c.(517-519)tCc>tTc	p.S173F	CLCN7_ENST00000262318.8_Missense_Mutation_p.S149F|CLCN7_ENST00000448525.1_Missense_Mutation_p.S149F	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	173						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CAGGGAGAAGGACAGTCCGCC	0.612000													3	10					0	0	0.009096	0	0
FN3KRP	79672	broad.mit.edu	37	17	80680682	80680682	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:80680682A>T	ENST00000269373.6	+	4	461	c.388A>T	c.(388-390)Aga>Tga	p.R130*	FN3KRP_ENST00000535965.1_Nonsense_Mutation_p.R80*	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	130							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CTTGCAAGGGAGAGGAGGTGG	0.562000													5	36					0	0	0.014758	0	0
ZNF830	91603	broad.mit.edu	37	17	33288891	33288891	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:33288891G>A	ENST00000361952.3	+	1	343	c.306G>A	c.(304-306)aaG>aaA	p.K102K		NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	102					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				ATTCCGTCAAGAGGAAAGCGC	0.602000													5	72					0	0	0.021553	0	0
TP53	7157	broad.mit.edu	37	17	7577142	7577142	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:7577142C>A	ENST00000420246.2	-	8	928	c.796G>T	c.(796-798)Gga>Tga	p.G266*	TP53_ENST00000455263.2_Nonsense_Mutation_p.G266*|TP53_ENST00000269305.4_Nonsense_Mutation_p.G266*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.G266*|TP53_ENST00000445888.2_Nonsense_Mutation_p.G266*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTGTTCCGTCCCAGTAGATTA	0.517000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	41					3.41278e-10	4.24447e-10	0.033300	1	0
EIF4G3	8672	broad.mit.edu	37	1	21183933	21183933	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:21183933C>T	ENST00000602326.1	-	23	3735	c.3152G>A	c.(3151-3153)cGg>cAg	p.R1051Q	EIF4G3_ENST00000264211.8_Missense_Mutation_p.R1045Q|EIF4G3_ENST00000537738.1_Missense_Mutation_p.R535Q|EIF4G3_ENST00000374935.3_Missense_Mutation_p.R765Q|EIF4G3_ENST00000400422.1_Missense_Mutation_p.R1045Q|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R1051Q|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R649Q	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1045					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GTCCAGTACCCGACTGTTCTT	0.463000													170	246					0	0	0.048971	0	0
LRTM1	57408	broad.mit.edu	37	3	54952844	54952844	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:54952844T>G	ENST00000273286.5	-	3	842	c.680A>C	c.(679-681)gAg>gCg	p.E227A	CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.E151A|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	227	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CTGGTACAGCTCATGAGGGAT	0.557000													12	14					0	0	0.080935	0	0
CCDC38	120935	broad.mit.edu	37	12	96284693	96284693	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:96284693G>C	ENST00000344280.3	-	9	1345	c.788C>G	c.(787-789)tCa>tGa	p.S263*	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	263										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTGTTACTTGAATGTAATGA	0.453000													6	53					0	0	0.038147	0	0
ATP2B1	490	broad.mit.edu	37	12	89996906	89996906	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:89996906T>A	ENST00000428670.3	-	18	3430	c.2974A>T	c.(2974-2976)Aaa>Taa	p.K992*	ATP2B1_ENST00000348959.3_Nonsense_Mutation_p.K992*|ATP2B1_ENST00000261173.2_Nonsense_Mutation_p.K992*|ATP2B1_ENST00000359142.3_Nonsense_Mutation_p.K992*|ATP2B1_ENST00000393164.2_Nonsense_Mutation_p.K735*			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	992					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CCATGAATTTTCCGGGCATTT	0.368000													8	40					0	0	0.058154	0	0
CDC5L	988	broad.mit.edu	37	6	44360513	44360513	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:44360513C>G	ENST00000371477.3	+	3	558	c.259C>G	c.(259-261)Cca>Gca	p.P87A		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	87	HTH myb-type 2.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			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)			GACCATTGCTCCAATCATTGG	0.423000													4	76					0	0	0.009096	0	0
DNMBP	23268	broad.mit.edu	37	10	101715910	101715910	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:101715910C>T	ENST00000342239.3	-	4	1412	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.E441K			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	441					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGGTACTGTTCTGAGTGCGGG	0.488000													19	185					0	0	0.055883	0	0
KAT7	11143	broad.mit.edu	37	17	47904772	47904772	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:47904772G>C	ENST00000503935.2	+	15	2312	c.1276G>C	c.(1276-1278)Gat>Cat	p.D426H	KAT7_ENST00000424009.2_Missense_Mutation_p.D552H|KAT7_ENST00000454930.2_Missense_Mutation_p.D443H|KAT7_ENST00000509773.1_Missense_Mutation_p.D472H|KAT7_ENST00000435742.2_Missense_Mutation_p.D396H|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000510819.1_Missense_Mutation_p.D413H|KAT7_ENST00000259021.4_Missense_Mutation_p.D582H			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	582					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										GGACCTGATTGATGAGTGGAT	0.433000													4	114					0	0	0.009096	0	0
AP1G2	8906	broad.mit.edu	37	14	24030622	24030622	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:24030622G>C	ENST00000308724.5	-	18	2631	c.1876C>G	c.(1876-1878)Ctg>Gtg	p.L626V	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.L626V	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	626					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		AGATCTAGCAGATCCAGGAGC	0.607000													10	64					0	0	0.093190	0	0
FSHR	2492	broad.mit.edu	37	2	49217725	49217725	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:49217725A>T	ENST00000406846.2	-	5	545	c.426T>A	c.(424-426)caT>caA	p.H142Q	FSHR_ENST00000346173.3_Missense_Mutation_p.H142Q|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000304421.4_Missense_Mutation_p.H142Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	142					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TTTGGAGAGAATGAATCTTGT	0.378000									Gonadal Dysgenesis, 46 XX				27	147					0	0	0.108266	0	0
TNXB	7148	broad.mit.edu	37	6	32046820	32046820	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:32046820C>T	ENST00000375244.3	-	11	4566	c.4365G>A	c.(4363-4365)gtG>gtA	p.V1455V	TNXB_ENST00000375247.2_Silent_p.V1455V			P22105	TENX_HUMAN	tenascin XB	1542					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGTCACGCCCACGGCGGACA	0.657000													13	31					0	0	0.043863	0	0
APC	324	broad.mit.edu	37	5	112164574	112164574	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:112164574A>C	ENST00000457016.1	+	14	2028	c.1648A>C	c.(1648-1650)Aat>Cat	p.N550H	CTC-554D6.1_ENST00000520401.1_Silent_p.G45G|APC_ENST00000257430.4_Missense_Mutation_p.N550H|APC_ENST00000508376.2_Missense_Mutation_p.N550H			P25054	APC_HUMAN	adenomatous polyposis coli	550	Leu-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.?(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)		TGTTTTGAGGAATTTGTCTTG	0.323000		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)			6	71					0	0	0.021553	0	0
IPCEF1	26034	broad.mit.edu	37	6	154568616	154568616	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:154568616G>A	ENST00000265198.4	-	4	195	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	IPCEF1_ENST00000422970.2_Missense_Mutation_p.P15S|IPCEF1_ENST00000367220.4_Missense_Mutation_p.P15S|IPCEF1_ENST00000519344.1_5'UTR	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						TGACGCAAGGGAACCTGCTGA	0.423000													17	166					0	0	0.043863	0	0
FARSA	2193	broad.mit.edu	37	19	13035802	13035802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:13035802C>T	ENST00000588025.1	-	10	1202	c.1062G>A	c.(1060-1062)tgG>tgA	p.W354*	FARSA_ENST00000423140.2_Nonsense_Mutation_p.W283*|FARSA_ENST00000314606.4_Nonsense_Mutation_p.W314*			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	314					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CGTCCAGCTTCCAGTTATACT	0.607000													5	27					0	0	0.014758	0	0
PUF60	22827	broad.mit.edu	37	8	144902887	144902887	+	Splice_Site	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:144902887C>A	ENST00000526683.1	-	5	853		c.e5-1		PUF60_ENST00000527197.1_Intron|PUF60_ENST00000349157.6_Intron|PUF60_ENST00000456095.2_Splice_Site|PUF60_ENST00000524570.1_Splice_Site|PUF60_ENST00000313352.7_Intron|PUF60_ENST00000453551.2_Splice_Site	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa						apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTGCTGCCATCTGAAAGACAG	0.557000													7	18					9.31168e-06	1.05604e-05	0.105934	1	0
SLIT3	6586	broad.mit.edu	37	5	168250306	168250306	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:168250306G>T	ENST00000519560.1	-	7	1007	c.588C>A	c.(586-588)atC>atA	p.I196I	SLIT3_ENST00000404867.3_Silent_p.I196I|SLIT3_ENST00000332966.8_Silent_p.I196I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	196					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTGACCAGGATGCGACTGA	0.527000													40	147					8.16904e-11	1.02546e-10	0.098360	1	0
GRIK5	2901	broad.mit.edu	37	19	42526491	42526491	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:42526491C>T	ENST00000262895.3	-	12	1488	c.1489G>A	c.(1489-1491)Gtg>Atg	p.V497M	GRIK5_ENST00000301218.4_Missense_Mutation_p.V497M|GRIK5_ENST00000593562.1_Missense_Mutation_p.V497M	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	497						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	AAGGCGGCCACAGCCAGGTCT	0.587000													27	76					0	0	0.041601	0	0
RARA	5914	broad.mit.edu	37	17	38487575	38487575	+	Silent	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:38487575C>G	ENST00000254066.5	+	2	560	c.105C>G	c.(103-105)ctC>ctG	p.L35L	RARA_ENST00000394089.2_Silent_p.L35L|RARA_ENST00000425707.3_Silent_p.L35L	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	35	Modulating.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TGGGTGGACTCTCCCCGCCAG	0.642000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								4	51					0	0	0.009096	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994356	45994356	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr21:45994356C>T	ENST00000400374.3	+	1	751	c.721C>T	c.(721-723)Cct>Tct	p.P241S	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	241	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CTGCTGCAAGCCTGTGTGCTC	0.637000													20	157					0	0	0.062417	0	0
LGR5	8549	broad.mit.edu	37	12	71974202	71974202	+	Splice_Site	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:71974202A>T	ENST00000266674.5	+	16	1862	c.1552_splice	c.e16+1	p.Q517_splice	LGR5_ENST00000540815.2_Splice_Site_p.Q493_splice|LGR5_ENST00000536515.1_Splice_Site_p.Q445_splice			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	517						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTCAGGCTCAAGGTAGGACTT	0.403000													88	133					0	0	0.048971	0	0
DNMT3A	1788	broad.mit.edu	37	2	25457219	25457219	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:25457219C>A	ENST00000264709.3	-	23	3005	c.2668G>T	c.(2668-2670)Ggc>Tgc	p.G890C	DNMT3A_ENST00000402667.1_Missense_Mutation_p.G667C|DNMT3A_ENST00000380746.4_Missense_Mutation_p.G701C|DNMT3A_ENST00000321117.5_Missense_Mutation_p.G890C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	890					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.G890fs*24(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGACCGGCCCAGCAGTCTC	0.582000			"""Mis, F, N, S"""		AML								11	42					3.27435e-08	3.94629e-08	0.020292	1	0
FLNC	2318	broad.mit.edu	37	7	128490895	128490895	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:128490895A>C	ENST00000325888.8	+	33	5698	c.5437A>C	c.(5437-5439)Aac>Cac	p.N1813H	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.N1780H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1813					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGCACGGCCCAACATCACCGA	0.607000													6	54					0	0	0.029380	0	0
VPS13C	54832	broad.mit.edu	37	15	62221815	62221815	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:62221815C>T	ENST00000261517.5	-	51	6244	c.6171G>A	c.(6169-6171)ctG>ctA	p.L2057L	VPS13C_ENST00000395898.3_Silent_p.L2014L|VPS13C_ENST00000395896.4_Silent_p.L2057L|VPS13C_ENST00000249837.3_Silent_p.L2014L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2057					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CCACAGTCATCAGAAATTCCA	0.393000													14	35					0	0	0.028581	0	0
CSMD3	114788	broad.mit.edu	37	8	113529283	113529283	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:113529283G>T	ENST00000297405.5	-	28	4980	c.4736C>A	c.(4735-4737)cCc>cAc	p.P1579H	CSMD3_ENST00000455883.2_Missense_Mutation_p.P1475H|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1539H|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1579H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1579	Sushi 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGTGGGCTGGGCTGCCAGAA	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	84					2.17888e-05	2.43193e-05	0.058154	1	0
NEB	4703	broad.mit.edu	37	2	152581406	152581406	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:152581406C>T	ENST00000427231.2	-	7	674	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	NEB_ENST00000409198.1_Missense_Mutation_p.E158K|NEB_ENST00000603639.1_Missense_Mutation_p.E158K|NEB_ENST00000397345.3_Missense_Mutation_p.E158K|NEB_ENST00000172853.10_Missense_Mutation_p.E158K|NEB_ENST00000604864.1_Missense_Mutation_p.E158K	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	158					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTGCATGTTCAATATCCTTT	0.413000													5	92					0	0	0.014758	0	0
MUC16	94025	broad.mit.edu	37	19	9090347	9090347	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:9090347A>C	ENST00000397910.4	-	1	1671	c.1468T>G	c.(1468-1470)Tct>Gct	p.S490A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	490	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCCTCCCAGAGGTGCTGCCT	0.537000													112	142					0	0	0.048971	0	0
OSBPL10	114884	broad.mit.edu	37	3	31725491	31725491	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:31725491C>G	ENST00000396556.2	-	8	1483	c.1361G>C	c.(1360-1362)aGa>aCa	p.R454T	OSBPL10_ENST00000438237.2_Missense_Mutation_p.R390T	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	454					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GCAAATGACTCTCTCCTCTGG	0.527000													5	96					0	0	0.038147	0	0
CEP152	22995	broad.mit.edu	37	15	49090224	49090224	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:49090224G>A	ENST00000380950.2	-	3	299	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	CEP152_ENST00000325747.5_Missense_Mutation_p.P38S|CEP152_ENST00000399334.3_Missense_Mutation_p.P38S	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	38					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ATGTCATGGGGAAGGTCTGTG	0.498000													4	24					0	0	0.014758	0	0
MT-ND4	4538	broad.mit.edu	37	MT	12101	12101	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrM:12101T>C	ENST00000361381.2	+	1	1342	c.1342T>C	c.(1342-1344)Tcc>Ccc	p.448_448insP						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						TTCTCCTCCTATCCCTCAACC	0.443000													24	72					0	0	0.076483	0	0
RNF19A	25897	broad.mit.edu	37	8	101271092	101271092	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:101271092C>G	ENST00000519449.1	-	11	2525	c.2209G>C	c.(2209-2211)Gaa>Caa	p.E737Q	RNF19A_ENST00000341084.2_Missense_Mutation_p.E737Q	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	737	Interaction with CASR.				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TTCATGCTTTCTAGGTCAGAA	0.408000											OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	159					0	0	0.038147	0	0
DNMT3A	1788	broad.mit.edu	37	2	25470507	25470507	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:25470507C>T	ENST00000264709.3	-	8	1304	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	DNMT3A_ENST00000402667.1_Missense_Mutation_p.E100K|DNMT3A_ENST00000380746.4_Missense_Mutation_p.E134K|DNMT3A_ENST00000321117.5_Missense_Mutation_p.E323K	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	323	Interaction with DNMT1 and DNMT3B.|PWWP.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGGTGCCTTCAGCTGCTCGG	0.612000			"""Mis, F, N, S"""		AML								10	46					0	0	0.093190	0	0
MDC1	9656	broad.mit.edu	37	6	30673605	30673605	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:30673605G>T	ENST00000376406.3	-	10	4002	c.3355C>A	c.(3355-3357)Cca>Aca	p.P1119T	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.P855T	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1119	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GAGGTAGCTGGAAAGGGTGTC	0.572000								Other conserved DNA damage response genes					15	273					0.000308642	0.000335136	0.024245	1	0
DDX60	55601	broad.mit.edu	37	4	169158901	169158901	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:169158901T>A	ENST00000393743.3	-	31	4501	c.4210A>T	c.(4210-4212)Aga>Tga	p.R1404*		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1404							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TCCATGACTCTGGGTTGCTTG	0.363000													12	49					0	0	0.105934	0	0
TCHH	7062	broad.mit.edu	37	1	152082425	152082425	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:152082425C>T	ENST00000368804.1	-	2	3267	c.3268G>A	c.(3268-3270)Gaa>Aaa	p.E1090K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1090	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGctgctcttcctcctgctgc	0.617000													10	224					0	0	0.080935	0	0
RAI14	26064	broad.mit.edu	37	5	34823763	34823763	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:34823763G>A	ENST00000265109.3	+	15	2103	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	RAI14_ENST00000397449.1_Missense_Mutation_p.E599K|RAI14_ENST00000428746.2_Missense_Mutation_p.E606K|RAI14_ENST00000512629.1_Missense_Mutation_p.E577K|RAI14_ENST00000506376.1_Missense_Mutation_p.E598K|RAI14_ENST00000503673.1_Missense_Mutation_p.E606K|RAI14_ENST00000515799.1_Missense_Mutation_p.E609K	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	606						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGAAGCCCAAGAAGAAATCAT	0.358000													29	82					0	0	0.034045	0	0
MSH6	2956	broad.mit.edu	37	2	48027172	48027172	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:48027172C>T	ENST00000234420.4	+	4	2202	c.2050C>T	c.(2050-2052)Cta>Tta	p.L684L	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.L554L|MSH6_ENST00000538136.1_Silent_p.L382L	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	684					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTCTCTGCTCTAGGTGGTTG	0.423000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				56	327					0	0	0.048971	0	0
ZNF263	10127	broad.mit.edu	37	16	3340406	3340406	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:3340406C>T	ENST00000219069.5	+	6	2776	c.1900C>T	c.(1900-1902)Cat>Tat	p.H634Y	ZNF263_ENST00000538765.1_Missense_Mutation_p.H282Y	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	634					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CTATACCTGTCATGAGTGCGG	0.458000													12	57					0	0	0.105934	0	0
JMY	133746	broad.mit.edu	37	5	78610650	78610650	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:78610650G>A	ENST00000396137.4	+	9	3097	c.2635G>A	c.(2635-2637)Gct>Act	p.A879T	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	879					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CAGAAAGACTGCTGAAGGTTT	0.478000													6	49					0	0	0.029380	0	0
PIBF1	10464	broad.mit.edu	37	13	73401164	73401164	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:73401164G>C	ENST00000326291.6	+	7	1161	c.823G>C	c.(823-825)Gaa>Caa	p.E275Q		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	275						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TGATGCACTTGAACAGGAAGT	0.338000													12	92					0	0	0.080935	0	0
NEURL3	93082	broad.mit.edu	37	2	97165143	97165143	+	RNA	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:97165143G>A	ENST00000310865.3	-	0	795									neuralized E3 ubiquitin protein ligase 3																		CCTTGTTGCTGAGGTCCCATG	0.632000													4	35					0	0	0.014758	0	0
MTERFD3	80298	broad.mit.edu	37	12	107371701	107371701	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:107371701C>T	ENST00000552029.1	-	2	2860	c.792G>A	c.(790-792)caG>caA	p.Q264Q	C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000392830.2_Silent_p.Q264Q|MTERFD3_ENST00000240050.4_Silent_p.Q264Q			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						AAATACTATTCTGTATACTTC	0.353000													6	73					0	0	0.021553	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105360888	105360888	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:105360888C>A	ENST00000297581.2	+	2	157	c.108C>A	c.(106-108)tgC>tgA	p.C36*	DCSTAMP_ENST00000517991.1_Nonsense_Mutation_p.C36*|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	36					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TGGGAGTTTGCTGTTTGGTTG	0.517000													19	106					7.45023e-12	9.44035e-12	0.055883	1	0
PRMT8	56341	broad.mit.edu	37	12	3659145	3659145	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:3659145C>G	ENST00000382622.3	+	3	695	c.305C>G	c.(304-306)tCc>tGc	p.S102C	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S93C	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	102					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			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)			TACCGGAACTCCATGTACCAC	0.507000													14	120					0	0	0.024245	0	0
PAPL	390928	broad.mit.edu	37	19	39575991	39575991	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:39575991C>T	ENST00000331256.5	+	2	356	c.82C>T	c.(82-84)Ccc>Tcc	p.P28S	PAPL_ENST00000594229.1_Missense_Mutation_p.P28S	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		28						extracellular region	acid phosphatase activity|metal ion binding										CCTGGGGGCTCCCAGCGCTGC	0.587000													16	237					0	0	0.033300	0	0
ABCA13	154664	broad.mit.edu	37	7	48313368	48313368	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:48313368C>G	ENST00000435803.1	+	17	4129	c.4105C>G	c.(4105-4107)Cag>Gag	p.Q1369E		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1369					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAATACCTCACAGAGGATGTT	0.333000													7	18					0	0	0.029380	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819229	50819229	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:50819229G>A	ENST00000374115.3	+	1	883	c.443G>A	c.(442-444)cGc>cAc	p.R148H	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	148					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TTCATCGACCGCATGAGCTAC	0.617000													4	109					0	0	0.009096	0	0
MAST4	375449	broad.mit.edu	37	5	66460254	66460254	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:66460254G>C	ENST00000404260.3	+	29	5564	c.5256G>C	c.(5254-5256)caG>caC	p.Q1752H	MAST4_ENST00000403666.1_Missense_Mutation_p.Q1560H|MAST4_ENST00000261569.7_Missense_Mutation_p.Q1555H|MAST4_ENST00000403625.2_Missense_Mutation_p.Q1749H|MAST4_ENST00000405643.1_Missense_Mutation_p.Q1570H			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1752						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ATGCAGCTCAGATGAGTGCCG	0.617000													4	41					0	0	0.014758	0	0
PODXL	5420	broad.mit.edu	37	7	131191400	131191400	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:131191400C>T	ENST00000541194.1	-	6	1450	c.1193G>A	c.(1192-1194)gGc>gAc	p.G398D	PODXL_ENST00000378555.3_Missense_Mutation_p.G396D|PODXL_ENST00000537928.1_Missense_Mutation_p.G364D|PODXL_ENST00000322985.9_Missense_Mutation_p.G364D	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	396					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CAGCCGTATGCCGCACTTATC	0.572000											OREG0018320	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	48					0	0	0.024245	0	0
IPO8	10526	broad.mit.edu	37	12	30787166	30787166	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:30787166G>C	ENST00000256079.4	-	23	3088	c.2750C>G	c.(2749-2751)tCa>tGa	p.S917*	IPO8_ENST00000544829.1_Nonsense_Mutation_p.S712*	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	917					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCCATTATTTGACTGCATTGC	0.413000													6	64					0	0	0.021553	0	0
MRE11A	4361	broad.mit.edu	37	11	94204877	94204877	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:94204877G>C	ENST00000323929.3	-	8	930	c.708C>G	c.(706-708)gaC>gaG	p.D236E	MRE11A_ENST00000407439.3_Missense_Mutation_p.D239E|MRE11A_ENST00000393241.4_Missense_Mutation_p.D236E|MRE11A_ENST00000323977.3_Missense_Mutation_p.D236E	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	236					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GATCAATGAAGTCATCCAAAA	0.333000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				9	32					0	0	0.069234	0	0
SUGP1	57794	broad.mit.edu	37	19	19407828	19407828	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:19407828C>A	ENST00000247001.5	-	8	1560	c.1213G>T	c.(1213-1215)Gac>Tac	p.D405Y		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	405					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						GCATCCACGTCCCTCTGCACC	0.597000													11	13					0.000219431	0.000240384	0.020292	1	0
POSTN	10631	broad.mit.edu	37	13	38172752	38172752	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:38172752C>A	ENST00000379747.4	-	1	229	c.112G>T	c.(112-114)Gac>Tac	p.D38Y	POSTN_ENST00000379743.4_Missense_Mutation_p.D38Y|POSTN_ENST00000541179.1_Missense_Mutation_p.D38Y|POSTN_ENST00000379749.4_Missense_Mutation_p.D38Y|POSTN_ENST00000379742.4_Missense_Mutation_p.D38Y|POSTN_ENST00000541481.1_Missense_Mutation_p.D38Y	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	38					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TACCCTTGGTCCCGACCCCTG	0.378000													11	67					2.68362e-12	3.42688e-12	0.093190	1	0
ZNF12	7559	broad.mit.edu	37	7	6732239	6732239	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:6732239C>T	ENST00000405858.1	-	5	875	c.334G>A	c.(334-336)Gag>Aag	p.E112K	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.E112K|ZNF12_ENST00000404360.1_Missense_Mutation_p.E76K	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	112					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTACCTCTCTCTTCAATCAGG	0.378000													34	143					0	0	0.050027	0	0
TESPA1	9840	broad.mit.edu	37	12	55357556	55357556	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:55357556C>T	ENST00000524622.1	-	6	872	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	TESPA1_ENST00000449076.1_Missense_Mutation_p.E209K|TESPA1_ENST00000531122.1_Missense_Mutation_p.E71K|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000316577.8_Missense_Mutation_p.E209K|TESPA1_ENST00000532804.1_Missense_Mutation_p.E71K	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	209																	TCTTCCATTTCAATCCTCCGC	0.552000													13	81					0	0	0.105934	0	0
GJA4	2701	broad.mit.edu	37	1	35260489	35260489	+	Silent	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:35260489G>C	ENST00000342280.4	+	2	763	c.675G>C	c.(673-675)ctG>ctC	p.L225L		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	225					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGCTTAACCTGCTGGAGTTGG	0.612000													11	24					0	0	0.080935	0	0
DENND4C	55667	broad.mit.edu	37	9	19326161	19326161	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:19326161G>C	ENST00000380432.2	+	11	1414	c.1381G>C	c.(1381-1383)Gat>Cat	p.D461H	DENND4C_ENST00000434457.2_Missense_Mutation_p.D697H|DENND4C_ENST00000540671.1_5'UTR|DENND4C_ENST00000307015.9_5'UTR|DENND4C_ENST00000602925.1_Missense_Mutation_p.D697H	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	461						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GCCACCTCCTGATGATGGAAA	0.373000													4	72					0	0	0.029380	0	0
PDGFRB	5159	broad.mit.edu	37	5	149500812	149500812	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:149500812G>A	ENST00000261799.4	-	17	2887	c.2418C>T	c.(2416-2418)ttC>ttT	p.F806F		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	806	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTGGTAGCTGAAGCCCACGA	0.597000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								4	59					0	0	0.009096	0	0
STK4	6789	broad.mit.edu	37	20	43629042	43629042	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:43629042G>A	ENST00000372806.3	+	8	936	c.841G>A	c.(841-843)Gtc>Atc	p.V281I	STK4_ENST00000372801.1_Missense_Mutation_p.V281I|STK4_ENST00000499879.2_Missense_Mutation_p.V226I|STK4_ENST00000396731.4_Missense_Mutation_p.V281I	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	281	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				GCACCCATTTGTCAGGAGTGC	0.443000													15	63					0	0	0.033300	0	0
FOXO3	2309	broad.mit.edu	37	6	108882901	108882901	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:108882901G>A	ENST00000406360.1	+	1	833	c.490G>A	c.(490-492)Gac>Aac	p.D164N	FOXO3_ENST00000343882.6_Missense_Mutation_p.D164N	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	164					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GTCCTACGCGGACCTGATCAC	0.662000													3	7					0	0	0.014758	0	0
SLC9A4	389015	broad.mit.edu	37	2	103120023	103120023	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:103120023G>T	ENST00000295269.4	+	3	1294	c.837G>T	c.(835-837)ttG>ttT	p.L279F		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	279					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GAGGGGTATTGTTTGGCATCG	0.398000													19	56					8.34094e-07	9.75086e-07	0.049695	1	0
TBK1	29110	broad.mit.edu	37	12	64878273	64878273	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:64878273G>C	ENST00000331710.5	+	9	1522	c.1183G>C	c.(1183-1185)Gaa>Caa	p.E395Q		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	395					I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		ATTAATATATGAAAAAAGTAA	0.383000													3	38					0	0	0.004672	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521317	125521317	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:125521317C>A	ENST00000431078.1	+	15	2664	c.2300C>A	c.(2299-2301)aCc>aAc	p.T767N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	767	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATCACTGATACCGACAGATCA	0.408000													40	94					4.07013e-28	5.57243e-28	0.104719	1	0
RPL6	6128	broad.mit.edu	37	12	112844583	112844583	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:112844583G>C	ENST00000424576.2	-	4	633	c.448C>G	c.(448-450)Ctg>Gtg	p.L150V	RPL6_ENST00000202773.9_Missense_Mutation_p.L150V	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	150					endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						AGGATGATCAGAATGGTCCCG	0.572000													5	25					0	0	0.014758	0	0
KLK15	55554	broad.mit.edu	37	19	51329195	51329195	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:51329195C>A	ENST00000326856.4	-	6	754	c.625G>T	c.(625-627)Ggg>Tgg	p.G209W	KLK15_ENST00000301421.2_3'UTR|KLK15_ENST00000596931.1_3'UTR|KLK15_ENST00000598239.1_Missense_Mutation_p.G210W|KLK15_ENST00000416184.1_Missense_Mutation_p.G125W	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	210	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		AGGGGTCCCCCAGAGTCACCC	0.552000													11	109					6.40141e-05	7.07022e-05	0.080935	1	0
CACNA1G	8913	broad.mit.edu	37	17	48646276	48646276	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:48646276G>A	ENST00000352832.5	+	2	660	c.288G>A	c.(286-288)gtG>gtA	p.V96V	CACNA1G_ENST00000515165.1_Silent_p.V96V|CACNA1G_ENST00000512389.1_Silent_p.V96V|CACNA1G_ENST00000442258.2_Silent_p.V96V|CACNA1G_ENST00000416767.4_Silent_p.V96V|CACNA1G_ENST00000510366.1_Silent_p.V96V|CACNA1G_ENST00000514717.1_Silent_p.V96V|CACNA1G_ENST00000515411.1_Silent_p.V96V|CACNA1G_ENST00000513689.2_Silent_p.V96V|CACNA1G_ENST00000505165.1_Silent_p.V96V|CACNA1G_ENST00000514079.1_Silent_p.V96V|CACNA1G_ENST00000503485.1_Silent_p.V96V|CACNA1G_ENST00000514181.1_Silent_p.V96V|CACNA1G_ENST00000429973.2_Silent_p.V96V|CACNA1G_ENST00000358244.5_Silent_p.V96V|CACNA1G_ENST00000359106.5_Silent_p.V96V|CACNA1G_ENST00000515765.1_Silent_p.V96V|CACNA1G_ENST00000507896.1_Silent_p.V96V|CACNA1G_ENST00000507510.2_Silent_p.V96V|CACNA1G_ENST00000510115.1_Silent_p.V96V|CACNA1G_ENST00000507336.1_Silent_p.V96V|CACNA1G_ENST00000502264.1_Silent_p.V96V|CACNA1G_ENST00000360761.4_Silent_p.V96V|CACNA1G_ENST00000354983.4_Silent_p.V96V|CACNA1G_ENST00000507609.1_Silent_p.V96V|CACNA1G_ENST00000513964.1_Silent_p.V96V	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	96					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCAACTGCGTGACCCTGGGCA	0.607000													8	61					0	0	0.047766	0	0
GPR158	57512	broad.mit.edu	37	10	25464427	25464427	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:25464427C>T	ENST00000376351.3	+	1	437	c.78C>T	c.(76-78)cgC>cgT	p.R26R	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	26						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCGCCAGCCGCGACCCCCAAG	0.672000													4	13					0	0	0.029380	0	0
TMEM87B	84910	broad.mit.edu	37	2	112839076	112839076	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:112839076C>T	ENST00000283206.4	+	8	1188	c.819C>T	c.(817-819)atC>atT	p.I273I		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	273						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						ACCAAAACATCAGCAACACTG	0.373000													6	201					0	0	0.029380	0	0
C14orf28	122525	broad.mit.edu	37	14	45373679	45373679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:45373679G>A	ENST00000325192.3	+	4	971	c.696G>A	c.(694-696)tgG>tgA	p.W232*	C14orf28_ENST00000557112.1_Nonsense_Mutation_p.W202*|RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000553841.1_3'UTR	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	232										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TGCAACATTGGAAATCTGAAG	0.353000													7	45					0	0	0.029380	0	0
TYR	7299	broad.mit.edu	37	11	88924377	88924377	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:88924377G>T	ENST00000263321.5	+	2	1329	c.827G>T	c.(826-828)tGt>tTt	p.C276F	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	276					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CAGATTGTCTGTAGCCGATTG	0.448000													14	55					1.99824e-07	2.37541e-07	0.033300	1	0
GH2	2689	broad.mit.edu	37	17	61958482	61958482	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:61958482C>T	ENST00000332800.7	-	3	331	c.198G>A	c.(196-198)caG>caA	p.Q66Q	GH2_ENST00000423893.2_Silent_p.Q66Q|GH2_ENST00000456543.2_Silent_p.Q66Q|GH2_ENST00000449787.2_Intron	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	66						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						ATGAATACTTCTGCTCCTTCA	0.507000													9	243					0	0	0.058154	0	0
MYO18B	84700	broad.mit.edu	37	22	26177727	26177727	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:26177727G>T	ENST00000335473.7	+	10	2488	c.2238G>T	c.(2236-2238)gtG>gtT	p.V746V	MYO18B_ENST00000407587.2_Silent_p.V746V|MYO18B_ENST00000536101.1_Silent_p.V746V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	746	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGAGCCGCGTGGCACGGCAGC	0.562000													5	4					0.00448238	0.00473852	0.047766	1	0
GSK3B	2932	broad.mit.edu	37	3	119595286	119595286	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:119595286G>C	ENST00000264235.8	-	8	1865	c.883C>G	c.(883-885)Caa>Gaa	p.Q295E	GSK3B_ENST00000316626.5_Missense_Mutation_p.Q295E|GSK3B_ENST00000473886.1_5'UTR	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	295	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	GCCTTAATTTGAGGGAATTTA	0.333000													22	117					0	0	0.062417	0	0
KCNK2	3776	broad.mit.edu	37	1	215345456	215345456	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:215345456G>T	ENST00000444842.2	+	5	903	c.753G>T	c.(751-753)tgG>tgT	p.W251C	KCNK2_ENST00000391894.2_Missense_Mutation_p.W236C|KCNK2_ENST00000391895.2_Missense_Mutation_p.W247C	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	251							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TAGAAGGCTGGAGTGCCCTGG	0.418000													9	51					4.68919e-08	5.62855e-08	0.069234	1	0
PARP3	10039	broad.mit.edu	37	3	51978223	51978223	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:51978223G>T	ENST00000417220.2	+	4	790	c.302G>T	c.(301-303)tGg>tTg	p.W101L	PARP3_ENST00000431474.1_Missense_Mutation_p.W101L|PARP3_ENST00000398755.3_Missense_Mutation_p.W108L			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	101					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGGAACCACTGGGGCCGTGTG	0.572000													14	55					5.03518e-11	6.32604e-11	0.043863	1	0
GLS	2744	broad.mit.edu	37	2	191827653	191827653	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:191827653G>A	ENST00000320717.3	+	18	2209	c.1951G>A	c.(1951-1953)Gat>Aat	p.D651N	GLS_ENST00000409428.1_Missense_Mutation_p.D156N	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	651					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACCTCAAGGAGATTCTGACAA	0.383000													37	87					0	0	0.086207	0	0
BPGM	669	broad.mit.edu	37	7	134346744	134346744	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:134346744T>C	ENST00000393132.2	+	3	974	c.485T>C	c.(484-486)cTg>cCg	p.L162P	BPGM_ENST00000344924.3_Missense_Mutation_p.L162P|BPGM_ENST00000418040.1_Missense_Mutation_p.L162P	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase	162					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						AAGGATGTTCTGGAGAGACTC	0.458000													5	99					0	0	0.021553	0	0
OR2T34	127068	broad.mit.edu	37	1	248737473	248737473	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:248737473C>T	ENST00000328782.2	-	1	607	c.586G>A	c.(586-588)Gac>Aac	p.D196N		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGGAGACGTCAGAGCAGGAG	0.517000													21	262					0	0	0.083992	0	0
INVS	27130	broad.mit.edu	37	9	103035340	103035340	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:103035340G>A	ENST00000262457.2	+	12	1951	c.1766G>A	c.(1765-1767)aGa>aAa	p.R589K	INVS_ENST00000541287.1_Missense_Mutation_p.R493K|INVS_ENST00000262456.2_Missense_Mutation_p.R589K	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	589					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GAACAGTTGAGAAAAGATGCT	0.517000													11	148					0	0	0.069234	0	0
SRRM2	23524	broad.mit.edu	37	16	2812541	2812541	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:2812541C>T	ENST00000301740.8	+	11	2561	c.2012C>T	c.(2011-2013)tCt>tTt	p.S671F		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	671	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CGCTCACGCTCTAGAACCCCA	0.622000													66	302					0	0	0.048971	0	0
TTN	7273	broad.mit.edu	37	2	179450012	179450012	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:179450012C>T	ENST00000589042.1	-	309	64683	c.64459G>A	c.(64459-64461)Gaa>Aaa	p.E21487K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18919K|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12614K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E12422K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E19846K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12547K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19846	Fibronectin type-III 55.						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)			ACATGGGCTTCAATTCGGAGT	0.413000													9	173					0	0	0.047766	0	0
TMTC4	84899	broad.mit.edu	37	13	101287330	101287330	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:101287330C>A	ENST00000342624.5	-	11	1580	c.1322G>T	c.(1321-1323)tGt>tTt	p.C441F	TMTC4_ENST00000328767.5_Missense_Mutation_p.C311F|TMTC4_ENST00000376234.3_Missense_Mutation_p.C422F|TMTC4_ENST00000462211.1_5'UTR	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	422				L -> P (in Ref. 1; BAB55179).		integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCAGCACACAGTACCCAAC	0.527000													12	28					1.05317e-09	1.30108e-09	0.020292	1	0
DOCK8	81704	broad.mit.edu	37	9	312100	312100	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:312100G>C	ENST00000432829.2	+	6	787	c.471G>C	c.(469-471)caG>caC	p.Q157H	DOCK8_ENST00000469391.1_Missense_Mutation_p.Q157H|DOCK8_ENST00000453981.1_Missense_Mutation_p.Q225H	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	225					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTGAGAAGCAGAACGAGGAGG	0.582000													12	43					0	0	0.020292	0	0
GABRB1	2560	broad.mit.edu	37	4	47408703	47408703	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:47408703C>A	ENST00000295454.3	+	8	1132	c.840C>A	c.(838-840)atC>atA	p.I280I	GABRB1_ENST00000538619.1_Silent_p.I210I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	280					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCACAGGAATCACGACAGTGC	0.438000													13	55					0.00136819	0.00145993	0.093190	1	0
TEX14	56155	broad.mit.edu	37	17	56657049	56657049	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:56657049G>A	ENST00000389934.3	-	21	3452	c.3335C>T	c.(3334-3336)gCa>gTa	p.A1112V	TEX14_ENST00000349033.5_Missense_Mutation_p.A1072V|TEX14_ENST00000240361.8_Missense_Mutation_p.A1118V	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1118						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGGGCAAATGCACCTTGTAT	0.408000													10	48					0	0	0.080935	0	0
BTN2A1	11120	broad.mit.edu	37	6	26459904	26459904	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:26459904G>A	ENST00000429381.1	+	3	490	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	BTN2A1_ENST00000312541.5_Missense_Mutation_p.R93Q|BTN2A1_ENST00000469185.1_Missense_Mutation_p.R93Q|BTN2A1_ENST00000541522.1_Missense_Mutation_p.R32Q			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	93	Ig-like V-type.				lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						GAGGAGTACCGAGGAAGAACC	0.557000													11	82					0	0	0.069234	0	0
APOB	338	broad.mit.edu	37	2	21232396	21232396	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:21232396C>A	ENST00000233242.1	-	26	7471	c.7344G>T	c.(7342-7344)caG>caT	p.Q2448H		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2448					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATTGAGTCTCTGAGTCACCT	0.378000													44	150					4.01765e-15	5.23888e-15	0.111260	1	0
LENG8	114823	broad.mit.edu	37	19	54966210	54966210	+	Missense_Mutation	SNP	G	G	C	rs139748316		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:54966210G>C	ENST00000326764.5	+	7	1239	c.760G>C	c.(760-762)Gca>Cca	p.A254P	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	217							protein binding			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)		TGGCTCCAACGCAGAGGGCCA	0.612000													9	37					0	0	0.058154	0	0
ZNF527	84503	broad.mit.edu	37	19	37880524	37880524	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:37880524C>A	ENST00000436120.2	+	5	1680	c.1573C>A	c.(1573-1575)Ccc>Acc	p.P525T	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGAGAGAAACCCTATGAATG	0.393000													6	132					5.18039e-06	5.90676e-06	0.038147	1	0
XIRP2	129446	broad.mit.edu	37	2	168106326	168106326	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:168106326C>A	ENST00000409195.1	+	9	8513	c.8424C>A	c.(8422-8424)agC>agA	p.S2808R	XIRP2_ENST00000295237.9_Missense_Mutation_p.S2808R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2586R|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2633					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGAATTTAGCGGATCTGACA	0.403000													18	128					3.32936e-07	3.94196e-07	0.038395	1	0
VPS37C	55048	broad.mit.edu	37	11	60901509	60901509	+	Splice_Site	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:60901509C>A	ENST00000301765.5	-	3	496	c.265_splice	c.e3+1	p.L88_splice		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	88	VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						CCACCCTACCCAGCTTTGCCT	0.572000													24	31					5.45024e-15	7.10066e-15	0.083992	1	0
WDR96	80217	broad.mit.edu	37	10	105971899	105971899	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:105971899G>C	ENST00000357060.3	-	5	716	c.601C>G	c.(601-603)Cta>Gta	p.L201V	WDR96_ENST00000428666.1_Missense_Mutation_p.L201V|WDR96_ENST00000369719.1_Missense_Mutation_p.L131V|WDR96_ENST00000369720.1_Missense_Mutation_p.L131V|WDR96_ENST00000278064.2_Missense_Mutation_p.L131V	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	201										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCATCTTCTAGAGGTAATTTC	0.438000													15	68					0	0	0.028581	0	0
SAMD4A	23034	broad.mit.edu	37	14	55168881	55168881	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:55168881G>A	ENST00000251091.5	+	2	603	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	SAMD4A_ENST00000554335.1_Missense_Mutation_p.E100K|SAMD4A_ENST00000392067.3_Missense_Mutation_p.E100K|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000357634.3_Missense_Mutation_p.E99K	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	100					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CGCGAAAGTAGAATATATGAA	0.453000													5	53					0	0	0.029380	0	0
NOC3L	64318	broad.mit.edu	37	10	96093972	96093972	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:96093972G>C	ENST00000371361.3	-	21	2465	c.2365C>G	c.(2365-2367)Ctg>Gtg	p.L789V	NOC3L_ENST00000371350.1_Missense_Mutation_p.L789V|NOC3L_ENST00000543788.1_Intron	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	789						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				GTGAAATCCAGAGGCGATTCA	0.338000													7	31					0	0	0.038147	0	0
PSPH	5723	broad.mit.edu	37	7	56088770	56088770	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:56088770C>G	ENST00000395471.3	-	4	941	c.136G>C	c.(136-138)Gaa>Caa	p.E46Q	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.E46Q			P78330	SERB_HUMAN	phosphoserine phosphatase	46					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCCTACATTTCTGACACCGCG	0.428000													20	97					0	0	0.069288	0	0
POLR1B	84172	broad.mit.edu	37	2	113331230	113331230	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:113331230G>C	ENST00000263331.5	+	14	2943	c.2363G>C	c.(2362-2364)gGa>gCa	p.G788A	POLR1B_ENST00000417433.2_Missense_Mutation_p.G732A|POLR1B_ENST00000541869.1_Missense_Mutation_p.G826A|POLR1B_ENST00000409894.3_Missense_Mutation_p.G605A|POLR1B_ENST00000537335.1_Missense_Mutation_p.G577A	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	788					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						ATTAAACAAGGAGATAGTAGC	0.453000													10	152					0	0	0.069234	0	0
SEMA3A	10371	broad.mit.edu	37	7	83739785	83739785	+	Splice_Site	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:83739785C>A	ENST00000265362.3	-	4	768		c.e4+1		SEMA3A_ENST00000436949.1_Splice_Site	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A						axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GCCAGCGTTACCTCAGGATGA	0.373000													7	45					5.18039e-06	5.90676e-06	0.038147	1	0
ASIC2	40	broad.mit.edu	37	17	32483252	32483252	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:32483252G>T	ENST00000359872.6	-	1	1061	c.300C>A	c.(298-300)tcC>tcA	p.S100S		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	100					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TGGTGAGCCTGGAGAACCGGA	0.592000													10	61					4.3838e-07	5.16563e-07	0.105934	1	0
CCDC68	80323	broad.mit.edu	37	18	52602106	52602106	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr18:52602106T>A	ENST00000591504.1	-	7	819	c.545A>T	c.(544-546)gAa>gTa	p.E182V	CCDC68_ENST00000432185.1_Missense_Mutation_p.E182V|CCDC68_ENST00000337363.4_Missense_Mutation_p.E182V	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	182										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		GTGTTTTTCTTCAAGTTTTTC	0.358000													5	8					0	0	0.021553	0	0
ZNF223	7766	broad.mit.edu	37	19	44571372	44571372	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:44571372G>T	ENST00000591793.1	+	7	1804	c.1721G>T	c.(1720-1722)cGc>cTc	p.R574L	ZNF223_ENST00000434772.3_Missense_Mutation_p.R464L			Q9UK11	ZN223_HUMAN	zinc finger protein 223	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TGTGGGAAGCGCTACAAGAGG	0.358000													6	123					3.59834e-05	3.99515e-05	0.021553	1	0
CCDC89	220388	broad.mit.edu	37	11	85396455	85396455	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:85396455T>A	ENST00000316398.3	-	1	865	c.719A>T	c.(718-720)cAc>cTc	p.H240L		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	240						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGCCTGCTGGTGCTGCTGCTT	0.617000													16	29					0	0	0.076483	0	0
YEATS2	55689	broad.mit.edu	37	3	183508600	183508600	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:183508600C>T	ENST00000305135.5	+	21	3124	c.2929C>T	c.(2929-2931)Ccc>Tcc	p.P977S		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	977					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGGAATGGCTCCCGTGTCTTC	0.567000													4	63					0	0	0.009096	0	0
MYBPC1	4604	broad.mit.edu	37	12	102046895	102046895	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:102046895C>A	ENST00000549145.1	+	17	1700	c.1600C>A	c.(1600-1602)Cct>Act	p.P534T	MYBPC1_ENST00000551300.1_Missense_Mutation_p.P422T|MYBPC1_ENST00000536007.1_Missense_Mutation_p.P502T|MYBPC1_ENST00000553190.1_Missense_Mutation_p.P521T|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000541119.1_Missense_Mutation_p.P509T|MYBPC1_ENST00000392934.3_Missense_Mutation_p.P508T|MYBPC1_ENST00000361685.2_Missense_Mutation_p.P546T|MYBPC1_ENST00000361466.2_Missense_Mutation_p.P546T|MYBPC1_ENST00000360610.2_Missense_Mutation_p.P521T|MYBPC1_ENST00000550270.1_Missense_Mutation_p.P521T|MYBPC1_ENST00000452455.2_Missense_Mutation_p.P521T|MYBPC1_ENST00000547509.1_Missense_Mutation_p.P507T|MYBPC1_ENST00000547405.1_Missense_Mutation_p.P495T|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000545503.2_Missense_Mutation_p.P521T|MYBPC1_ENST00000441232.1_Missense_Mutation_p.P521T			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	521	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TATTCTAGATCCTCCTAAGAT	0.403000													4	51					0.00909568	0.00950678	0.009096	1	0
RIMS1	22999	broad.mit.edu	37	6	72960917	72960917	+	Splice_Site	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:72960917G>T	ENST00000264839.7	+	15	2544		c.e15-1		RIMS1_ENST00000401910.3_Splice_Site|RIMS1_ENST00000518273.1_Splice_Site|RIMS1_ENST00000517827.1_Splice_Site|RIMS1_ENST00000517960.1_Splice_Site|RIMS1_ENST00000523963.1_Splice_Site|RIMS1_ENST00000520567.1_Splice_Site|RIMS1_ENST00000425662.2_Splice_Site|RIMS1_ENST00000522291.1_Splice_Site|RIMS1_ENST00000491071.2_Splice_Site|RIMS1_ENST00000348717.5_Splice_Site|RIMS1_ENST00000521978.1_Splice_Site			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1						calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TACCCTCTCAGATCCTCATAG	0.338000													4	19					0.014758	0.0153276	0.014758	1	0
UBE3B	89910	broad.mit.edu	37	12	109927832	109927832	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:109927832T>G	ENST00000537063.1	+	8	890	c.653T>G	c.(652-654)gTg>gGg	p.V218G	UBE3B_ENST00000434735.2_Intron|UBE3B_ENST00000536398.1_Intron|UBE3B_ENST00000340074.5_Intron|UBE3B_ENST00000280774.5_Intron|UBE3B_ENST00000342494.3_Intron|UBE3B_ENST00000540230.1_Intron			Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGCCCCCCAGTGTGCAACTTC	0.463000													15	38					0	0	0.028581	0	0
PKHD1	5314	broad.mit.edu	37	6	51484224	51484224	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:51484224G>T	ENST00000371117.3	-	67	12155	c.11880C>A	c.(11878-11880)gtC>gtA	p.V3960V	RP3-335N17.2_ENST00000589278.1_RNA|RP3-335N17.2_ENST00000454361.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3960			V -> I (in dbSNP:rs34548196).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTCCTCTCGGACAATGTGGC	0.562000													34	48					9.10829e-22	1.22325e-21	0.048971	1	0
CABIN1	23523	broad.mit.edu	37	22	24487774	24487774	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:24487774G>C	ENST00000398319.2	+	24	4148	c.3763G>C	c.(3763-3765)Gag>Cag	p.E1255Q	CABIN1_ENST00000405822.2_Missense_Mutation_p.E1205Q|CABIN1_ENST00000263119.5_Missense_Mutation_p.E1255Q	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1255					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAACCCACCTGAGCTGGCCAT	0.637000													12	16					0	0	0.028581	0	0
USP54	159195	broad.mit.edu	37	10	75280781	75280781	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:75280781C>A	ENST00000339859.4	-	17	2467	c.2367G>T	c.(2365-2367)agG>agT	p.R789S	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000422491.2_Intron|USP54_ENST00000497106.1_Intron|USP54_ENST00000408019.1_Missense_Mutation_p.R789S|USP54_ENST00000428547.1_Missense_Mutation_p.R639S			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	789					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGCCGTCACTCCTCCCTGAAA	0.468000													8	25					0.000442599	0.000479888	0.058154	1	0
CD96	10225	broad.mit.edu	37	3	111316982	111316982	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:111316982T>A	ENST00000352690.4	+	6	1063	c.823T>A	c.(823-825)Tta>Ata	p.L275I	CD96_ENST00000438817.2_Missense_Mutation_p.L275I|CD96_ENST00000283285.5_Missense_Mutation_p.L291I	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	291	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						ATTTACCTGCTTACTAAAGAA	0.318000									Opitz Trigonocephaly syndrome				5	102					0	0	0.014758	0	0
ZNF429	353088	broad.mit.edu	37	19	21719513	21719513	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:21719513A>T	ENST00000358491.4	+	4	866	c.658A>T	c.(658-660)Aag>Tag	p.K220*	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TACTAACCATAAGAGAATTTA	0.353000													8	37					0	0	0.038147	0	0
BPIFB2	80341	broad.mit.edu	37	20	31604874	31604874	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:31604874G>A	ENST00000170150.3	+	7	738	c.543G>A	c.(541-543)gtG>gtA	p.V181V		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	181						extracellular region	lipid binding										CCAACCTGGTGCAGGGTGTCA	0.632000													107	191					0	0	0.048971	0	0
PSCA	8000	broad.mit.edu	37	8	143763502	143763502	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:143763502G>T	ENST00000301258.4	+	3	380	c.297G>T	c.(295-297)gcG>gcT	p.A99A		NM_005672.4	NP_005663.2	D3DWI6	D3DWI6_HUMAN	prostate stem cell antigen	99										endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCATCCTTGCGCTGCTCCCTG	0.677000													6	9					2.17888e-05	2.43193e-05	0.058154	1	0
CAMK4	814	broad.mit.edu	37	5	110782432	110782432	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:110782432C>T	ENST00000282356.4	+	6	906	c.508C>T	c.(508-510)Ctt>Ttt	p.L170F	CAMK4_ENST00000512453.1_Missense_Mutation_p.L170F	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	170	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACCAGAGAATCTTCTTTATGC	0.363000													5	43					0	0	0.021553	0	0
MYLK3	91807	broad.mit.edu	37	16	46763549	46763549	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:46763549G>T	ENST00000394809.4	-	6	1734	c.1619C>A	c.(1618-1620)cCa>cAa	p.P540Q	MYLK3_ENST00000536476.1_Missense_Mutation_p.P199Q	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	540	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGCAGCCAGTGGGAGGCCTGT	0.617000													28	42					2.85442e-18	3.77528e-18	0.045705	1	0
LILRA2	11027	broad.mit.edu	37	19	55086444	55086444	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:55086444C>G	ENST00000251377.3	+	5	732	c.599C>G	c.(598-600)tCg>tGg	p.S200W	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S188W|LILRA2_ENST00000391738.3_Missense_Mutation_p.S200W|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S200W					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.S200L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GCTTATGACTCGAACTCTCCC	0.577000													4	99					0	0	0.009096	0	0
MIRLET7E	406887	broad.mit.edu	37	19	52196047	52196047	+	RNA	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:52196047G>C	ENST00000602324.1	-	0	662				MIRLET7E_ENST00000362102.1_RNA	NR_029482.1|NR_029693.1																						CCCCCGGGCTGAGGTAGGAGG	0.687000													4	41					0	0	0.014758	0	0
LHPP	64077	broad.mit.edu	37	10	126185591	126185591	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:126185591G>A	ENST00000368842.5	+	4	557	c.529G>A	c.(529-531)Gag>Aag	p.E177K	LHPP_ENST00000392757.4_Missense_Mutation_p.E177K|LHPP_ENST00000368839.1_Missense_Mutation_p.E177K	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	177					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		GAAGGCGCTTGAGGTACCAGC	0.542000													8	70					0	0	0.038147	0	0
CYP3A7	1551	broad.mit.edu	37	7	99311122	99311122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:99311122G>A	ENST00000336374.2	-	9	837	c.835C>T	c.(835-837)Cag>Tag	p.Q279*		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	279					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TTTGAATTCTGAGAGTCAATC	0.423000													15	103					0	0	0.033300	0	0
PRRC2C	23215	broad.mit.edu	37	1	171560734	171560734	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:171560734G>C	ENST00000367742.3	+	34	8450	c.8208G>C	c.(8206-8208)caG>caC	p.Q2736H	PRRC2C_ENST00000392078.3_Missense_Mutation_p.Q2815H|PRRC2C_ENST00000338920.4_Missense_Mutation_p.Q2734H|PRRC2C_ENST00000426496.2_Missense_Mutation_p.Q2669H			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	322							protein C-terminus binding	p.Q2815H(2)									AGGCAAAGCAGAGAGCAGAGG	0.413000													4	117					0	0	0.009096	0	0
SORCS1	114815	broad.mit.edu	37	10	108459118	108459118	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:108459118C>A	ENST00000263054.6	-	9	1274	c.1267G>T	c.(1267-1269)Gtg>Ttg	p.V423L	SORCS1_ENST00000344440.6_Missense_Mutation_p.V423L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	423						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCTGCGAACACCTGATTCTCA	0.473000													7	63					5.18039e-06	5.90676e-06	0.038147	1	0
PLA2G4E	123745	broad.mit.edu	37	15	42293397	42293397	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:42293397C>G	ENST00000399518.3	-	7	1117	c.631G>C	c.(631-633)Gag>Cag	p.E211Q	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.E182Q	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	202					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GCATGAACCTCCAGGCAGGAG	0.542000													13	31					0	0	0.020292	0	0
ABLIM3	22885	broad.mit.edu	37	5	148637877	148637877	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:148637877C>G	ENST00000506113.1	+	23	2444	c.1962C>G	c.(1960-1962)ttC>ttG	p.F654L	ABLIM3_ENST00000504238.1_Intron|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.F654L|ABLIM3_ENST00000517451.1_Missense_Mutation_p.F140L|ABLIM3_ENST00000326685.7_Missense_Mutation_p.F559L|ABLIM3_ENST00000356541.3_Intron|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.F621L			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	654	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAAGAGTTCTACCAAGTCT	0.582000													5	59					0	0	0.014758	0	0
CIT	11113	broad.mit.edu	37	12	120166385	120166385	+	Silent	SNP	A	A	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:120166385A>G	ENST00000392521.2	-	28	3568	c.3513T>C	c.(3511-3513)gcT>gcC	p.A1171A	CIT_ENST00000261833.7_Silent_p.A1129A|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1129	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTTCAAGCATAGCATGCTTCT	0.453000													5	223					0	0	0.014758	0	0
OR2M5	127059	broad.mit.edu	37	1	248309355	248309355	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:248309355G>T	ENST00000366476.1	+	1	906	c.906G>T	c.(904-906)agG>agT	p.R302S		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GAGCACTCAGGAAAGTGTTAG	0.453000													15	70					0.00074312	0.000801033	0.038395	1	0
SRGAP2	23380	broad.mit.edu	37	1	206619503	206619503	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:206619503G>C	ENST00000414007.1	+	14	1537	c.1537G>C	c.(1537-1539)Gag>Cag	p.E513Q	SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	653	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GTCAGTGCCAGAGGGCCACGA	0.542000													11	95					0	0	0.093190	0	0
SLC26A5	375611	broad.mit.edu	37	7	103014987	103014987	+	Silent	SNP	T	T	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:103014987T>C	ENST00000306312.3	-	20	2355	c.2094A>G	c.(2092-2094)ctA>ctG	p.L698L	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Silent_p.L131L|SLC26A5_ENST00000432958.2_Silent_p.L666L|SLC26A5_ENST00000393723.1_Silent_p.L668L|SLC26A5_ENST00000393727.1_Silent_p.L700L|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393730.1_Silent_p.L666L|SLC26A5_ENST00000393729.1_Silent_p.L661L	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	698	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GCAGCTCCCATAGGGCAGGAT	0.458000													15	63					0	0	0.033300	0	0
SLC2A13	114134	broad.mit.edu	37	12	40422292	40422292	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:40422292C>T	ENST00000280871.4	-	3	786	c.736G>A	c.(736-738)Gca>Aca	p.A246T	SLC2A13_ENST00000380858.1_Missense_Mutation_p.A246T	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	246						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GCCGGAACTGCTGCAAGTCCC	0.413000										HNSCC(50;0.14)			8	87					0	0	0.047766	0	0
URB2	9816	broad.mit.edu	37	1	229783448	229783448	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:229783448C>T	ENST00000258243.2	+	7	4234	c.4098C>T	c.(4096-4098)gtC>gtT	p.V1366V		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1366						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ATGGAAGCGTCTTCCCGAGGC	0.597000													15	73					0	0	0.069288	0	0
APBB1IP	54518	broad.mit.edu	37	10	26802497	26802497	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:26802497G>T	ENST00000376236.4	+	8	1176	c.721G>T	c.(721-723)Gtt>Ttt	p.V241F		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	241	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TGAAAATGTTGTTGAAGTCTT	0.348000													4	54					0.00909568	0.00950678	0.009096	1	0
KIR3DL2	3812	broad.mit.edu	37	19	55377285	55377285	+	Silent	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:55377285G>C	ENST00000326321.3	+	7	1059	c.1026G>C	c.(1024-1026)ctG>ctC	p.L342L	KIR3DL2_ENST00000270442.5_Silent_p.L325L|KIR3DL1_ENST00000402254.2_Silent_p.L342L	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	342					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TGCATGTTCTGATTGGGACCT	0.448000													11	123					0	0	0.069234	0	0
SPATA9	83890	broad.mit.edu	37	5	95011344	95011344	+	Splice_Site	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:95011344C>G	ENST00000274432.8	-	3	292		c.e3-1		SPATA9_ENST00000477047.2_Splice_Site|SPATA9_ENST00000395899.3_Splice_Site|RFESD_ENST00000508206.1_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9						cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		GTTCTCTTTTCTGAAAAATAG	0.363000													3	43					0	0	0.004672	0	0
TSC2	7249	broad.mit.edu	37	16	2105465	2105465	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:2105465A>T	ENST00000219476.3	+	6	1174	c.544A>T	c.(544-546)Aac>Tac	p.N182Y	TSC2_ENST00000382538.6_Missense_Mutation_p.N133Y|TSC2_ENST00000401874.2_Missense_Mutation_p.N182Y|TSC2_ENST00000439673.2_Missense_Mutation_p.N145Y|TSC2_ENST00000568454.1_Missense_Mutation_p.N193Y|TSC2_ENST00000353929.4_Missense_Mutation_p.N182Y|TSC2_ENST00000350773.4_Missense_Mutation_p.N182Y	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	182	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGTGCTGGTGAACTTGGTCAA	0.493000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				12	75					0	0	0.020292	0	0
NPSR1	387129	broad.mit.edu	37	7	34851459	34851459	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:34851459G>T	ENST00000360581.1	+	4	590	c.462G>T	c.(460-462)atG>atT	p.M154I	NPSR1_ENST00000531252.1_Missense_Mutation_p.M143I|NPSR1_ENST00000381539.3_Missense_Mutation_p.M154I|NPSR1_ENST00000359791.1_Missense_Mutation_p.M154I|NPSR1_ENST00000381542.1_Intron	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	154						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TCTACCCCATGAAGTTCCTTC	0.458000													11	127					0.000978159	0.00105209	0.080935	1	0
COL2A1	1280	broad.mit.edu	37	12	48370606	48370606	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:48370606G>A	ENST00000380518.3	-	48	3588	c.3424C>T	c.(3424-3426)Ccc>Tcc	p.P1142S	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.P1073S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1142	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGAGGGCCGGGCAGACCCTGC	0.652000													9	4					0	0	0.069234	0	0
MTMR3	8897	broad.mit.edu	37	22	30416572	30416572	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:30416572C>G	ENST00000333027.3	+	17	3252	c.2924C>G	c.(2923-2925)tCt>tGt	p.S975C	MTMR3_ENST00000406629.1_Missense_Mutation_p.S975C|MTMR3_ENST00000323630.5_Missense_Mutation_p.S839C|MTMR3_ENST00000401950.2_Missense_Mutation_p.S975C|MTMR3_ENST00000351488.3_Missense_Mutation_p.S975C|CTA-85E5.10_ENST00000429350.1_RNA	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	975					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CGTCAGCTGTCTGCTATGAGC	0.592000													6	58					0	0	0.038147	0	0
GPR112	139378	broad.mit.edu	37	X	135431050	135431050	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:135431050G>T	ENST00000394143.1	+	6	5476	c.5185G>T	c.(5185-5187)Gtg>Ttg	p.V1729L	GPR112_ENST00000412101.1_Missense_Mutation_p.V1524L|GPR112_ENST00000394141.1_Missense_Mutation_p.V1524L|GPR112_ENST00000370652.1_Missense_Mutation_p.V1729L|GPR112_ENST00000287534.4_Missense_Mutation_p.V1666L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1729					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCTATCTACTGTGAACAGTGG	0.413000													20	105					1.96292e-10	2.45158e-10	0.055883	1	0
OR2T11	127077	broad.mit.edu	37	1	248789612	248789612	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:248789612G>C	ENST00000330803.2	-	1	879	c.818C>G	c.(817-819)gCc>gGc	p.A273G		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			GGTATAGAAGGCTGACACTAC	0.488000													15	48					0	0	0.028581	0	0
BNC1	646	broad.mit.edu	37	15	83926518	83926518	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:83926518C>A	ENST00000345382.2	-	5	2746	c.2661G>T	c.(2659-2661)atG>atT	p.M887I	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.M880I	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	887					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CACTGTCCTCCATAAGCACAG	0.547000													34	118					2.09667e-21	2.8082e-21	0.064281	1	0
HIST1H3B	8358	broad.mit.edu	37	6	26031919	26031919	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:26031919C>T	ENST00000244661.2	-	1	369	c.370G>A	c.(370-372)Gac>Aac	p.D124N		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	124					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						AGCTGGATGTCTTTGGGCATA	0.507000													6	73					0	0	0.038147	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40737629	40737629	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:40737629G>C	ENST00000372759.3	+	6	856	c.691G>C	c.(691-693)Gag>Cag	p.E231Q		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	231						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			ACCTCTGCCTGAGGGAAAGCT	0.373000													6	23					0	0	0.029380	0	0
EGFLAM	133584	broad.mit.edu	37	5	38338834	38338834	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:38338834T>A	ENST00000322350.5	+	3	588	c.242T>A	c.(241-243)cTg>cAg	p.L81Q	EGFLAM_ENST00000354891.3_Missense_Mutation_p.L81Q	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	81	Fibronectin type-III 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GATAAATCCCTGCAGGAGCAG	0.532000													17	26					0	0	0.033300	0	0
PCDH10	57575	broad.mit.edu	37	4	134073414	134073414	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:134073414G>T	ENST00000264360.4	+	1	2945	c.2119G>T	c.(2119-2121)Ggc>Tgc	p.G707C		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	707					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TCGCTCTGGCGGCGGGGAAAC	0.682000													19	17					2.4624e-09	3.02938e-09	0.049695	1	0
TMEM38B	55151	broad.mit.edu	37	9	108468025	108468025	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:108468025C>T	ENST00000374688.1	+	2	808	c.98C>T	c.(97-99)tCt>tTt	p.S33F	TMEM38B_ENST00000374692.3_Missense_Mutation_p.S87F			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	87						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						TTACTGGCATCTTCAATCTGG	0.358000													6	50					0	0	0.029380	0	0
ITGA10	8515	broad.mit.edu	37	1	145537563	145537563	+	Splice_Site	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:145537563A>T	ENST00000369304.3	+	20	2748	c.2574_splice	c.e20+1	p.Q858_splice	ITGA10_ENST00000539363.1_Splice_Site_p.Q715_splice|ITGA10_ENST00000538811.1_Splice_Site_p.Q727_splice	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	858					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTCACTCCTCAGGTGCCTTTg	0.507000													5	298					0	0	0.021553	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140856119	140856119	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:140856119G>A	ENST00000308177.3	+	1	540	c.436G>A	c.(436-438)Gag>Aag	p.E146K	PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGATTAGCGAGGCCGTGGC	0.547000													7	47					0	0	0.047766	0	0
OTUD7B	56957	broad.mit.edu	37	1	149943104	149943104	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:149943104G>T	ENST00000369135.3	-	3	455	c.161C>A	c.(160-162)cCa>cAa	p.P54Q	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	54					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			ACTAAAGGATGGGGGTAGGTT	0.537000													33	80					2.40579e-17	3.16495e-17	0.086207	1	0
CCT4	10575	broad.mit.edu	37	2	62096610	62096610	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:62096610C>T	ENST00000394440.3	-	13	1866	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	CCT4_ENST00000544079.1_Missense_Mutation_p.E494K|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000538252.1_Missense_Mutation_p.E468K|CCT4_ENST00000544185.1_Missense_Mutation_p.E374K|CCT4_ENST00000461540.2_5'UTR	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	524					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			CGAACAGTTTCAGTTGCAAGA	0.398000													6	84					0	0	0.038147	0	0
MCHR2	84539	broad.mit.edu	37	6	100395739	100395739	+	Silent	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:100395739T>A	ENST00000281806.2	-	3	605	c.291A>T	c.(289-291)ggA>ggT	p.G97G	MCHR2_ENST00000445970.1_Silent_p.G97G|MCHR2_ENST00000369212.1_Silent_p.G97G	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	97						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		ACACCCACTCTCCCCCTCGGG	0.488000													14	57					0	0	0.024245	0	0
PGK2	5232	broad.mit.edu	37	6	49754364	49754364	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:49754364C>T	ENST00000304801.3	-	1	689	c.537G>A	c.(535-537)gtG>gtA	p.V179V		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	179					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GGGGCAGATTCACTCCCACCA	0.468000													5	68					0	0	0.014758	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857079	9857079	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:9857079G>T	ENST00000396573.2	-	14	4631	c.4322C>A	c.(4321-4323)aCc>aAc	p.T1441N	GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1441N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1441N|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000535259.1_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1441					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AACCCTGGGGGTAGAGTACAT	0.393000													4	49					1.23904e-05	1.39028e-05	0.014758	1	0
EIF2AK2	5610	broad.mit.edu	37	2	37366778	37366778	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:37366778G>A	ENST00000233057.4	-	6	834	c.512C>T	c.(511-513)tCa>tTa	p.S171L	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.S171L|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.S171L	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	171					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				ACGTACCACTGAGGTTTCTTC	0.363000													7	65					0	0	0.029380	0	0
CACNA1C	775	broad.mit.edu	37	12	2786968	2786968	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:2786968G>A	ENST00000399655.1	+	41	5291	c.5026G>A	c.(5026-5028)Gag>Aag	p.E1676K	CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1676K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E1684K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.E1724K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E1701K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E1676K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E1684K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E1676K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1695K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E1682K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1695K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1676K|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1696K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1676K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E1704K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E1676K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1676K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1695K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1676K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E1693K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E1676K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E1717K	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1724					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCTCACCGCTGAGGAGGAGCT	0.597000													4	53					0	0	0.009096	0	0
ITGA1	3672	broad.mit.edu	37	5	52240774	52240774	+	Splice_Site	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:52240774C>G	ENST00000282588.6	+	27	3745	c.3285_splice	c.e27-1	p.S1096_splice	CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1096					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GCTTTTCAGTCATATTTTTCC	0.328000													10	70					0	0	0.080935	0	0
MTX2	10651	broad.mit.edu	37	2	177202373	177202373	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:177202373G>T	ENST00000392529.2	+	11	1148	c.743G>T	c.(742-744)gGt>gTt	p.G248V	MTX2_ENST00000443241.1_Missense_Mutation_p.G202V|MTX2_ENST00000249442.6_Missense_Mutation_p.G258V			O75431	MTX2_HUMAN	metaxin 2	258					protein targeting to mitochondrion	mitochondrial outer membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			GAAGATCGTGGTAAAGGCAGG	0.348000													83	156					4.69036e-40	6.51194e-40	0.048971	1	0
SLC38A1	81539	broad.mit.edu	37	12	46582801	46582801	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:46582801C>A	ENST00000398637.5	-	17	2110	c.1416G>T	c.(1414-1416)ttG>ttT	p.L472F	SLC38A1_ENST00000549049.1_Missense_Mutation_p.L472F|SLC38A1_ENST00000546893.1_Missense_Mutation_p.L472F|SLC38A1_ENST00000439706.1_Missense_Mutation_p.L472F	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	472					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CATAGATGACCAAGGGAATGC	0.512000													45	68					9.45407e-15	1.22953e-14	0.048971	1	0
NAV3	89795	broad.mit.edu	37	12	78444770	78444770	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:78444770C>A	ENST00000397909.2	+	11	2532	c.2359C>A	c.(2359-2361)Cga>Aga	p.R787R	NAV3_ENST00000536525.2_Silent_p.R787R|NAV3_ENST00000228327.6_Silent_p.R787R|NAV3_ENST00000266692.7_Silent_p.R787R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	787						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCCTCTCCGTCGAGCTGCTGT	0.547000										HNSCC(70;0.22)			6	35					8.12818e-05	8.95068e-05	0.029380	1	0
BCORL1	63035	broad.mit.edu	37	X	129150088	129150088	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:129150088C>G	ENST00000540052.1	+	3	3384	c.3340C>G	c.(3340-3342)Ctg>Gtg	p.L1114V	BCORL1_ENST00000218147.7_Missense_Mutation_p.L1114V|BCORL1_ENST00000359304.2_Missense_Mutation_p.L1114V|BCORL1_ENST00000303743.5_Missense_Mutation_p.L1114V	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1114					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GACGGAATCTCTGCCGCCCAA	0.567000													10	11					0	0	0.058154	0	0
PTPN13	5783	broad.mit.edu	37	4	87656020	87656020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:87656020C>T	ENST00000436978.1	+	14	2623	c.2143C>T	c.(2143-2145)Caa>Taa	p.Q715*	PTPN13_ENST00000511467.1_Nonsense_Mutation_p.Q715*|PTPN13_ENST00000411767.2_Nonsense_Mutation_p.Q715*|PTPN13_ENST00000316707.6_Nonsense_Mutation_p.Q715*|PTPN13_ENST00000427191.2_Nonsense_Mutation_p.Q715*	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	715	FERM.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TGGAGATTATCAACCAGAGGT	0.398000													32	165					0	0	0.098360	0	0
CR1	1378	broad.mit.edu	37	1	207791567	207791567	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:207791567G>T	ENST00000367049.4	+	42	7041	c.7041G>T	c.(7039-7041)tgG>tgT	p.W2347C	CR1_ENST00000367052.1_Missense_Mutation_p.W1897C|CR1_ENST00000400960.2_Missense_Mutation_p.W1897C|CR1_ENST00000367053.1_Missense_Mutation_p.W1897C|CR1_ENST00000367051.1_Missense_Mutation_p.W1897C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1897					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGGGAATCTGGAGCCAATTGG	0.433000													109	164					6.25824e-51	8.72147e-51	0.048971	1	0
IGHV3-13	28449	broad.mit.edu	37	14	106586325	106586325	+	RNA	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:106586325G>C	ENST00000390602.2	-	0	239																											CGGACCCAGTGCATGTCGTAG	0.582000													8	45					0	0	0.049695	0	0
OR1L3	26735	broad.mit.edu	37	9	125438141	125438141	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:125438141C>T	ENST00000304820.2	+	1	827	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						CAGCTCCCATCTCACTGTGGT	0.433000													39	53					0	0	0.086207	0	0
PTPRB	5787	broad.mit.edu	37	12	70983967	70983967	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:70983967C>A	ENST00000334414.6	-	8	1871	c.1827G>T	c.(1825-1827)atG>atT	p.M609I	PTPRB_ENST00000551525.1_Missense_Mutation_p.M608I|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Missense_Mutation_p.M609I|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000261266.5_Missense_Mutation_p.M391I|PTPRB_ENST00000538708.1_Missense_Mutation_p.M391I|PTPRB_ENST00000550857.1_Intron	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	391	Fibronectin type-III 7.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CAAGAGACCTCATCCTGCCAT	0.463000											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	117					1.42033e-22	1.91447e-22	0.069456	1	0
CEP112	201134	broad.mit.edu	37	17	64024523	64024523	+	Splice_Site	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:64024523C>A	ENST00000392769.2	-	15	1722	c.1503_splice	c.e15-1	p.A502_splice	CEP112_ENST00000537949.1_Splice_Site_p.A460_splice|CEP112_ENST00000541355.1_Splice_Site_p.A137_splice|CEP112_ENST00000535342.2_Splice_Site_p.A502_splice	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	502						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						ATACTAGATGCCTACAAGGAT	0.328000													5	84					0.014758	0.0153276	0.014758	1	0
ROBO4	54538	broad.mit.edu	37	11	124761245	124761245	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:124761245G>A	ENST00000306534.3	-	12	2383	c.1898C>T	c.(1897-1899)cCc>cTc	p.P633L	ROBO4_ENST00000533054.1_Missense_Mutation_p.P488L|RP11-664I21.6_ENST00000524433.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	633					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGACAAGCGGGGAGAAGAGAG	0.637000													4	20					0	0	0.093190	0	0
SIMC1	375484	broad.mit.edu	37	5	175722177	175722177	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:175722177G>T	ENST00000443967.1	+	5	1926	c.1519G>T	c.(1519-1521)Gct>Tct	p.A507S	SIMC1_ENST00000429602.2_Missense_Mutation_p.A526S|SIMC1_ENST00000341199.6_Missense_Mutation_p.A92S|SIMC1_ENST00000430704.2_Missense_Mutation_p.A92S					SUMO-interacting motifs containing 1																		AGAAATCGTGGCTCACATCAT	0.438000													6	29					5.18039e-06	5.90676e-06	0.038147	1	0
ZNF780A	284323	broad.mit.edu	37	19	40581097	40581097	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:40581097C>T	ENST00000450241.2	-	6	1461	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	ZNF780A_ENST00000595687.2_Missense_Mutation_p.E418K|ZNF780A_ENST00000340963.5_Missense_Mutation_p.E418K|ZNF780A_ENST00000594395.1_Missense_Mutation_p.E419K|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.E419K			O75290	Z780A_HUMAN	zinc finger protein 780A	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCCTTACATTCATATGGTTTT	0.383000													19	305					0	0	0.049695	0	0
CNGB1	1258	broad.mit.edu	37	16	57949204	57949204	+	Silent	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:57949204G>C	ENST00000564448.1	-	23	2295	c.2235C>G	c.(2233-2235)ctC>ctG	p.L745L	CNGB1_ENST00000251102.8_Silent_p.L751L			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	751			L -> I (in dbSNP:rs10459809).		sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CTTTCAAATAGAGAAAATCCA	0.582000													3	30					0	0	0.009096	0	0
ZNF436-AS1	148898	broad.mit.edu	37	1	23696036	23696036	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:23696036G>A	ENST00000335648.3	+	1	308	c.246G>A	c.(244-246)gcG>gcA	p.A82A	C1orf213_ENST00000437367.2_Intron|C1orf213_ENST00000458053.1_Intron|C1orf213_ENST00000454117.1_Intron|C1orf213_ENST00000518821.1_Intron																kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		ACTTGCAGGCGAAGCCCAGAT	0.557000													9	24					0	0	0.058154	0	0
ZIM2	23619	broad.mit.edu	37	19	57286238	57286238	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:57286238A>T	ENST00000391708.3	-	12	1944	c.1402T>A	c.(1402-1404)Tgt>Agt	p.C468S	ZIM2_ENST00000221722.5_Missense_Mutation_p.C468S|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.C468S|ZIM2_ENST00000599935.1_Missense_Mutation_p.C468S|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.C468S	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CAGTCACAACACTGGCAGGCT	0.478000													19	57					0	0	0.069288	0	0
KCNH7	90134	broad.mit.edu	37	2	163256901	163256901	+	Silent	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:163256901G>C	ENST00000332142.5	-	10	2304	c.2205C>G	c.(2203-2205)ctC>ctG	p.L735L		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	735					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATGTCTGGTTGAGATGTAGAC	0.448000													30	154					0	0	0.054565	0	0
DIAPH2	1730	broad.mit.edu	37	X	96213115	96213115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:96213115G>T	ENST00000324765.8	+	16	2250	c.1903G>T	c.(1903-1905)Gaa>Taa	p.E635*	DIAPH2_ENST00000373054.4_Nonsense_Mutation_p.E631*|DIAPH2_ENST00000355827.4_Nonsense_Mutation_p.E635*|DIAPH2_ENST00000373049.4_Nonsense_Mutation_p.E635*|DIAPH2_ENST00000373061.3_Nonsense_Mutation_p.E635*			O60879	DIAP2_HUMAN	diaphanous-related formin 2	635	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GTATAAACCTGAAGTGTCCAT	0.398000													8	15					1.12685e-05	1.27308e-05	0.047766	1	0
CDH8	1006	broad.mit.edu	37	16	61687880	61687880	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:61687880C>T	ENST00000577390.1	-	12	2986	c.2032G>A	c.(2032-2034)Gag>Aag	p.E678K	CDH8_ENST00000299345.6_Missense_Mutation_p.E678K|CDH8_ENST00000577730.1_Missense_Mutation_p.E678K	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	678					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCAAAAGCCTCTGTGTCCTCC	0.403000													25	88					0	0	0.099896	0	0
SNAI2	6591	broad.mit.edu	37	8	49831474	49831474	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:49831474C>A	ENST00000396822.1	-	4	1056	c.699G>T	c.(697-699)caG>caT	p.Q233H	SNAI2_ENST00000020945.1_Missense_Mutation_p.Q233H			O43623	SNAI2_HUMAN	snail family zinc finger 2	233					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CAGAATGGGTCTGCAGATGAG	0.478000													10	38					3.27435e-08	3.94629e-08	0.020292	1	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216650	26216650	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:26216650G>A	ENST00000244601.3	-	1	222	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	74					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CCTCGCCTGCGATGCGTTCGA	0.562000													13	197					0	0	0.038395	0	0
UBA6	55236	broad.mit.edu	37	4	68501192	68501192	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:68501192C>G	ENST00000322244.4	-	20	1880	c.1821G>C	c.(1819-1821)ttG>ttC	p.L607F		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	607					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AAGACTCAGTCAAATGCGGTA	0.323000													4	63					0	0	0.009096	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90121911	90121911	+	RNA	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:90121911C>T	ENST00000483379.1	+	0	310																											GAGTCACCATCACTTGTCGGG	0.478000													10	493					0	0	0.105934	0	0
UNC5D	137970	broad.mit.edu	37	8	35406824	35406824	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:35406824G>A	ENST00000287272.2	+	2	138	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	UNC5D_ENST00000404895.2_Missense_Mutation_p.E40K|UNC5D_ENST00000416672.1_Missense_Mutation_p.E40K|UNC5D_ENST00000453357.2_Missense_Mutation_p.E35K|UNC5D_ENST00000420357.1_Missense_Mutation_p.E40K			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	40					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGACAATGGCGAAGCCCTTCC	0.463000													4	46					0	0	0.009096	0	0
SLC4A5	57835	broad.mit.edu	37	2	74474317	74474317	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:74474317G>T	ENST00000394019.2	-	19	2302	c.1905C>A	c.(1903-1905)ttC>ttA	p.F635L	SLC4A5_ENST00000357822.5_Missense_Mutation_p.F635L|SLC4A5_ENST00000423644.1_Missense_Mutation_p.F635L|SLC4A5_ENST00000377634.4_Missense_Mutation_p.F635L|SLC4A5_ENST00000359484.4_Missense_Mutation_p.F571L|SLC4A5_ENST00000358683.4_Missense_Mutation_p.F571L|SLC4A5_ENST00000346834.4_Missense_Mutation_p.F635L|SLC4A5_ENST00000377632.1_Missense_Mutation_p.F635L|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	635						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCTCCTCGGTGAAGCGGGTGA	0.488000													15	140					2.32078e-09	2.85754e-09	0.024245	1	0
NEU1	4758	broad.mit.edu	37	6	31829061	31829061	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:31829061C>G	ENST00000375631.4	-	3	648	c.519G>C	c.(517-519)tgG>tgC	p.W173C		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	173						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	CATCCTTGCTCCATACCAACA	0.537000													4	52					0	0	0.009096	0	0
NEDD1	121441	broad.mit.edu	37	12	97334248	97334248	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:97334248G>T	ENST00000266742.4	+	10	1518	c.1179G>T	c.(1177-1179)caG>caT	p.Q393H	NEDD1_ENST00000457368.2_Missense_Mutation_p.Q304H|NEDD1_ENST00000557644.1_Missense_Mutation_p.Q400H|NEDD1_ENST00000411739.2_Missense_Mutation_p.Q304H|NEDD1_ENST00000429527.2_Missense_Mutation_p.Q393H	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	393					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GAAAAAATCAGGATTTCTCCA	0.368000													10	31					3.07112e-06	3.53167e-06	0.080935	1	0
PAX4	5078	broad.mit.edu	37	7	127253140	127253140	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:127253140C>G	ENST00000341640.2	-	6	832	c.627G>C	c.(625-627)tgG>tgC	p.W209C	PAX4_ENST00000378740.2_Missense_Mutation_p.W209C|PAX4_ENST00000463946.1_Missense_Mutation_p.W207C|PAX4_ENST00000338516.3_Missense_Mutation_p.W217C	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	217					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TGTTGGAAAACCAGACCTGAG	0.522000													4	41					0	0	0.014758	0	0
SLC7A9	11136	broad.mit.edu	37	19	33349427	33349427	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:33349427T>A	ENST00000023064.4	-	9	1087	c.896A>T	c.(895-897)tAt>tTt	p.Y299F	SLC7A9_ENST00000590341.1_Missense_Mutation_p.Y299F|SLC7A9_ENST00000587772.1_Missense_Mutation_p.Y299F	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	299					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	AGAAGCAGGATAGAGAACACG	0.562000													21	52					0	0	0.083992	0	0
CTNND2	1501	broad.mit.edu	37	5	11082866	11082866	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:11082866G>T	ENST00000304623.8	-	16	2919	c.2730C>A	c.(2728-2730)tgC>tgA	p.C910*	CTNND2_ENST00000458100.2_Nonsense_Mutation_p.C477*|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.C573*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.C819*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.C852*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	910					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.C910C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGCCACCGCGCACACCACAC	0.527000													25	62					2.41591e-17	3.17544e-17	0.099896	1	0
OR4M2	390538	broad.mit.edu	37	15	22369079	22369079	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:22369079C>T	ENST00000332663.2	+	1	602	c.504C>T	c.(502-504)ttC>ttT	p.F168F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F168F(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACTTCCTTTCTGTGGGCCCA	0.493000													27	237					0	0	0.030593	0	0
PKD1L2	114780	broad.mit.edu	37	16	81228586	81228586	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:81228586G>T	ENST00000599697.1	-	8	1587	c.1588C>A	c.(1588-1590)Ctg>Atg	p.L530M	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	530	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCCAAACTCAGGTTGGAGAAG	0.483000													9	30					5.4927e-09	6.7128e-09	0.047766	1	0
TTC3	7267	broad.mit.edu	37	21	38498419	38498419	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr21:38498419C>T	ENST00000399017.2	+	15	4020	c.1273C>T	c.(1273-1275)Cat>Tat	p.H425Y	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.H425Y|TTC3_ENST00000354749.2_Missense_Mutation_p.H425Y|TTC3_ENST00000540756.1_Missense_Mutation_p.H115Y	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	425					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.H425Y(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTGTGACTGTCATCCTGAATT	0.368000													7	64					0	0	0.029380	0	0
TFG	10342	broad.mit.edu	37	3	100463679	100463679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:100463679C>T	ENST00000240851.4	+	7	1064	c.724C>T	c.(724-726)Cag>Tag	p.Q242*	TFG_ENST00000481203.1_3'UTR|TFG_ENST00000476228.1_Nonsense_Mutation_p.Q238*|TFG_ENST00000490574.1_Nonsense_Mutation_p.Q242*|TFG_ENST00000418917.2_Nonsense_Mutation_p.Q238*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	242					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						GTTTTCAGGTCAGATGTACCA	0.448000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								7	108					0	0	0.029380	0	0
RBM27	54439	broad.mit.edu	37	5	145651095	145651095	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:145651095C>G	ENST00000265271.5	+	19	3012	c.2846C>G	c.(2845-2847)tCt>tGt	p.S949C	RBM27_ENST00000506502.1_Missense_Mutation_p.S894C	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	949					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCATGTCCTCTCAAGGTCGA	0.478000													5	54					0	0	0.021553	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143770	61143770	+	RNA	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:61143770C>T	ENST00000475015.1	-	0	568				C20orf166-AS1_ENST00000412495.1_RNA														p.E26E(1)									AACCGCTGCTCTCCTGCGTCC	0.662000													7	31					0	0	0.058154	0	0
EIF4A2	1974	broad.mit.edu	37	3	186505046	186505046	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:186505046C>T	ENST00000323963.5	+	8	966	c.902C>T	c.(901-903)tCt>tTt	p.S301F	EIF4A2_ENST00000356531.5_Missense_Mutation_p.S206F|EIF4A2_ENST00000440191.2_Missense_Mutation_p.S302F			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	301	Helicase C-terminal.				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			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)		TTCACAGTTTCTGCTCTGGTA	0.458000			T	BCL6	NHL								7	112					0	0	0.029380	0	0
DSP	1832	broad.mit.edu	37	6	7586071	7586071	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:7586071C>G	ENST00000379802.3	+	24	8917	c.8576C>G	c.(8575-8577)tCt>tGt	p.S2859C	DSP_ENST00000418664.2_Missense_Mutation_p.S2260C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2859	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCTTCCTACTCTTATTCCTAC	0.507000													9	105					0	0	0.069234	0	0
NOTCH1	4851	broad.mit.edu	37	9	139395166	139395166	+	Silent	SNP	T	T	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:139395166T>G	ENST00000277541.6	-	31	5847	c.5772A>C	c.(5770-5772)acA>acC	p.T1924T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1924					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCGTGCGGTCTGTCTGGTTGT	0.692000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			6	7					0	0	0.021553	0	0
STXBP2	6813	broad.mit.edu	37	19	7705871	7705871	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:7705871C>T	ENST00000441779.2	+	6	481	c.444C>T	c.(442-444)ttC>ttT	p.F148F	STXBP2_ENST00000221283.5_Silent_p.F137F|CTD-3214H19.4_ENST00000595866.1_3'UTR|STXBP2_ENST00000414284.2_Silent_p.F134F	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	137					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACCTTGCCTTCCTCCCCTACG	0.627000													4	38					0	0	0.014758	0	0
FAT2	2196	broad.mit.edu	37	5	150948363	150948363	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:150948363C>T	ENST00000261800.5	-	1	142	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	44	Cadherin 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGAATTTTCATAGATGGTG	0.512000													8	110					0	0	0.038147	0	0
EXO1	9156	broad.mit.edu	37	1	242045269	242045269	+	Missense_Mutation	SNP	A	A	C	rs111708150		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:242045269A>C	ENST00000366548.3	+	14	2754	c.2161A>C	c.(2161-2163)Aag>Cag	p.K721Q	EXO1_ENST00000348581.5_Missense_Mutation_p.K721Q|EXO1_ENST00000518483.1_Missense_Mutation_p.K721Q	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	721	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CCAGACCTCCAAGCTACGTTT	0.308000								Editing and processing nucleases					15	23					0	0	0.049695	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													7	49					0	0	0.038147	0	0
NIPBL	25836	broad.mit.edu	37	5	37060969	37060969	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:37060969C>G	ENST00000282516.8	+	45	8208	c.7709C>G	c.(7708-7710)tCt>tGt	p.S2570C	NIPBL_ENST00000448238.2_Missense_Mutation_p.S2570C	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2570					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TACTCTCCATCTGAATCTGCA	0.348000													12	39					0	0	0.093190	0	0
NUP214	8021	broad.mit.edu	37	9	134014781	134014781	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:134014781G>T	ENST00000359428.5	+	10	1263	c.1119G>T	c.(1117-1119)gtG>gtT	p.V373V	NUP214_ENST00000451030.1_Silent_p.V373V|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000411637.2_Silent_p.V373V|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	373					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CAAACCAAGTGGAAATCACCA	0.428000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								10	65					2.27111e-07	2.6933e-07	0.093190	1	0
RANBP3	8498	broad.mit.edu	37	19	5941646	5941646	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:5941646G>A	ENST00000340578.6	-	5	449	c.392C>T	c.(391-393)cCa>cTa	p.P131L	RANBP3_ENST00000591092.1_Missense_Mutation_p.P63L|RANBP3_ENST00000541471.1_Intron|RANBP3_ENST00000439268.2_Missense_Mutation_p.P131L|RANBP3_ENST00000034275.8_Missense_Mutation_p.P63L|RANBP3_ENST00000591124.1_5'UTR	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	131					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CTGTGAGGGTGGGAACTGGGT	0.473000													14	83					0	0	0.024245	0	0
UNC79	57578	broad.mit.edu	37	14	94120142	94120142	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:94120142C>G	ENST00000553484.1	+	38	6475	c.6321C>G	c.(6319-6321)atC>atG	p.I2107M	UNC79_ENST00000256339.4_Missense_Mutation_p.I1908M|UNC79_ENST00000555664.1_Missense_Mutation_p.I2046M|UNC79_ENST00000393151.2_Missense_Mutation_p.I2085M			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2085						integral to membrane				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						TGCGCTGCATCTTCCATCAGT	0.557000													18	268					0	0	0.043863	0	0
KCNH4	23415	broad.mit.edu	37	17	40327635	40327635	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:40327635G>C	ENST00000264661.3	-	6	1281	c.949C>G	c.(949-951)Ctg>Gtg	p.L317V	KCNH4_ENST00000607371.1_Missense_Mutation_p.L317V	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	317					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCAAAGGGCAGAGCAGCAATA	0.552000													15	199					0	0	0.024245	0	0
SYNE2	23224	broad.mit.edu	37	14	64407334	64407334	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:64407334G>A	ENST00000358025.3	+	3	312	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	SYNE2_ENST00000356081.3_Missense_Mutation_p.E28K|SYNE2_ENST00000344113.4_Missense_Mutation_p.E28K|SYNE2_ENST00000341472.5_Missense_Mutation_p.E28K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E28K|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	28	Actin-binding.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTTGATAGCTGAACAGGAAGA	0.423000													6	109					0	0	0.029380	0	0
DNAH2	146754	broad.mit.edu	37	17	7720704	7720704	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:7720704G>A	ENST00000572933.1	+	65	11451	c.9991G>A	c.(9991-9993)Gag>Aag	p.E3331K	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3331K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3331					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTACCGGGATGAGATTGTCAA	0.587000													14	167					0	0	0.024245	0	0
SLC26A4	5172	broad.mit.edu	37	7	107352992	107352992	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:107352992C>T	ENST00000265715.3	+	20	2468	c.2244C>T	c.(2242-2244)ctC>ctT	p.L748L	SLC26A4_ENST00000544569.1_Silent_p.L335L|SLC26A4_ENST00000541474.1_Silent_p.L309L|SLC26A4_ENST00000543100.1_Silent_p.L317L	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	748					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AGATCACTCTCATTCAGGATT	0.388000									Pendred syndrome				4	32					0	0	0.014758	0	0
CPQ	10404	broad.mit.edu	37	8	98155361	98155361	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:98155361G>A	ENST00000220763.5	+	8	1579	c.1369G>A	c.(1369-1371)Gtt>Att	p.V457I		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	457					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										TGTTTGGGCTGTTGTTTCTTA	0.443000													7	103					0	0	0.047766	0	0
PI4KA	5297	broad.mit.edu	37	22	21159358	21159358	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:21159358C>G	ENST00000255882.6	-	11	1350	c.1264G>C	c.(1264-1266)Gac>Cac	p.D422H	PI4KA_ENST00000572273.1_Missense_Mutation_p.D364H	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	364					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGGATCCGGTCTGCGTCATGT	0.557000													6	66					0	0	0.029380	0	0
LRFN2	57497	broad.mit.edu	37	6	40359729	40359729	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:40359729G>A	ENST00000338305.6	-	3	2865	c.2323C>T	c.(2323-2325)Cgg>Tgg	p.R775W		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	775						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAAGTCCCCCGGGCCCCCACC	0.612000													7	65					0	0	0.058154	0	0
OR6V1	346517	broad.mit.edu	37	7	142749742	142749742	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:142749742A>T	ENST00000418316.1	+	1	326	c.305A>T	c.(304-306)cAc>cTc	p.H102L		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TTCTACTTCCACTTTTCCCTG	0.547000													35	94					0	0	0.059317	0	0
SYNE2	23224	broad.mit.edu	37	14	64449499	64449499	+	Nonsense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:64449499C>G	ENST00000358025.3	+	17	2218	c.1988C>G	c.(1987-1989)tCa>tGa	p.S663*	SYNE2_ENST00000344113.4_Nonsense_Mutation_p.S663*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.S663*|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	663					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGTTGGTTTCAAAAACTCAA	0.333000													7	67					0	0	0.038147	0	0
TCHH	7062	broad.mit.edu	37	1	152083102	152083102	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:152083102C>T	ENST00000368804.1	-	2	2590	c.2591G>A	c.(2590-2592)cGa>cAa	p.R864Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	864					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTGGCTTCGCCTCCTCTC	0.627000													17	159					0	0	0.049695	0	0
GPM6A	2823	broad.mit.edu	37	4	176561960	176561960	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:176561960C>A	ENST00000280187.7	-	6	607	c.562G>T	c.(562-564)Gaa>Taa	p.E188*	GPM6A_ENST00000393658.2_Nonsense_Mutation_p.E188*|GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000506894.1_Nonsense_Mutation_p.E177*|GPM6A_ENST00000515090.1_Nonsense_Mutation_p.E181*	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	188						cell surface|integral to membrane		p.E188K(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ATTTTCTTTTCCTCTCCAATT	0.338000													4	19					0.00909568	0.00950678	0.009096	1	0
ABCG4	64137	broad.mit.edu	37	11	119020680	119020680	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:119020680C>A	ENST00000307417.3	+	2	369	c.5C>A	c.(4-6)gCg>gAg	p.A2E	ABCG4_ENST00000449422.2_Missense_Mutation_p.A2E|ABCG4_ENST00000531739.1_Missense_Mutation_p.A2E	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	2					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGCGTGATGGCGGAGAAGGCG	0.706000													11	18					1.02788e-11	1.29912e-11	0.033300	1	0
SH3GL2	6456	broad.mit.edu	37	9	17786510	17786510	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:17786510G>A	ENST00000380607.4	+	4	439	c.319G>A	c.(319-321)Gat>Aat	p.D107N	SH3GL2_ENST00000537391.1_Missense_Mutation_p.D60N	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	107	BAR.|Binds and tubulates liposomes (By similarity).				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GCTTGGAGATGATTGCAACTT	0.478000													7	32					0	0	0.038147	0	0
CDR1	1038	broad.mit.edu	37	X	139866323	139866323	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:139866323G>A	ENST00000370532.2	-	1	400	c.209C>T	c.(208-210)tCg>tTg	p.S70L		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	70	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CATAGCTTCCGAAAAATCCAG	0.453000													9	49					0	0	0.047766	0	0
RICTOR	253260	broad.mit.edu	37	5	38953092	38953092	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:38953092G>A	ENST00000357387.3	-	29	2922	c.2892C>T	c.(2890-2892)atC>atT	p.I964I	RICTOR_ENST00000296782.5_Silent_p.I964I	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	964					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CCTACCCTCTGATGGAAAGAA	0.353000													5	79					0	0	0.029380	0	0
PPP4R1L	55370	broad.mit.edu	37	20	56847873	56847873	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:56847873C>G	ENST00000334187.8	-	4	257	c.244G>C	c.(244-246)Gac>Cac	p.D82H	PPP4R1L_ENST00000244070.3_Missense_Mutation_p.D53H|PPP4R1L_ENST00000462333.1_5'UTR																							GTGAGGAAGTCTTCTTCATTG	0.373000													3	20					0	0	0.004672	0	0
FAM188B	84182	broad.mit.edu	37	7	30915196	30915196	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:30915196C>T	ENST00000265299.6	+	15	1973	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000509504.1_Silent_p.I95I|AQP1_ENST00000434909.2_5'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	632				I -> F (in Ref. 1; AAQ10898).						endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGGGAACATCACACTTCTCA	0.488000													41	240					0	0	0.098360	0	0
PRKD3	23683	broad.mit.edu	37	2	37487372	37487372	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:37487372G>A	ENST00000379066.1	-	15	2802	c.2040C>T	c.(2038-2040)gtC>gtT	p.V680V	PRKD3_ENST00000234179.2_Silent_p.V680V			O94806	KPCD3_HUMAN	protein kinase D3	680	Protein kinase.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ATACCTGTGTGACCATGAATT	0.343000													7	36					0	0	0.029380	0	0
SLC18B1	116843	broad.mit.edu	37	6	133118163	133118163	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:133118163G>A	ENST00000275227.4	-	2	237	c.141C>T	c.(139-141)tcC>tcT	p.S47S	SLC18B1_ENST00000538764.1_5'UTR|SLC18B1_ENST00000367918.1_Silent_p.S47S|SLC18B1_ENST00000460518.1_5'UTR	NM_052831.2	NP_439896.1	Q6NT16	CF192_HUMAN	solute carrier family 18, subfamily B, member 1	47					transmembrane transport	integral to membrane											AGCACATCATGGAACCTAAGT	0.423000													25	110					0	0	0.083992	0	0
HOXC9	3225	broad.mit.edu	37	12	54396303	54396303	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:54396303G>A	ENST00000303450.4	+	2	698	c.628G>A	c.(628-630)Gag>Aag	p.E210K	HOXC9_ENST00000504557.1_3'UTR|HOXC9_ENST00000508190.1_Missense_Mutation_p.E210K	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	210					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						ACTGGAGAAGGAGTTTCTCTT	0.562000													9	222					0	0	0.058154	0	0
KPNA6	23633	broad.mit.edu	37	1	32628050	32628050	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:32628050T>C	ENST00000373625.3	+	9	929	c.836T>C	c.(835-837)cTg>cCg	p.L279P	KPNA6_ENST00000545542.1_Missense_Mutation_p.L284P|KPNA6_ENST00000537234.1_Missense_Mutation_p.L276P	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	279					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTTTCTTATCTGTCTGATGGC	0.542000													26	44					0	0	0.091800	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025122	16025122	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:16025122C>A	ENST00000326742.7	-	10	1326	c.1325G>T	c.(1324-1326)aGg>aTg	p.R442M	CYP4F11_ENST00000402119.3_Missense_Mutation_p.G464W|CYP4F11_ENST00000248041.7_Missense_Mutation_p.G464W			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	0					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TACCTGGGCCCTGCCGAGAAG	0.557000													137	170					2.78738e-67	3.89548e-67	0.048971	1	0
YIPF5	81555	broad.mit.edu	37	5	143545014	143545014	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:143545014C>T	ENST00000274496.5	-	3	399	c.265G>A	c.(265-267)Gag>Aag	p.E89K	YIPF5_ENST00000513112.1_Missense_Mutation_p.E35K|YIPF5_ENST00000448443.2_Missense_Mutation_p.E89K	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	89	Interaction with Sec23.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AAAGGTGGCTCATCCTCAAAG	0.408000													4	66					0	0	0.009096	0	0
SERPINB4	6318	broad.mit.edu	37	18	61310740	61310740	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr18:61310740C>T	ENST00000341074.5	-	2	187	c.72G>A	c.(70-72)gaG>gaA	p.E24E	SERPINB4_ENST00000356424.6_Silent_p.E24E	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AGATGTTGTTCTCTTTTGATT	0.428000													14	86					0	0	0.020292	0	0
ZNF536	9745	broad.mit.edu	37	19	31039656	31039656	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:31039656C>G	ENST00000355537.3	+	4	3277	c.3130C>G	c.(3130-3132)Caa>Gaa	p.Q1044E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1044					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.Q1044*(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTGCAAAGACCAAGCCCGGGA	0.542000													20	31					0	0	0.049695	0	0
DEFA4	1669	broad.mit.edu	37	8	6794277	6794277	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:6794277C>G	ENST00000297435.2	-	2	269	c.145G>C	c.(145-147)Gat>Cat	p.D49H		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	49					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GAGCTTTTATCCCATGCAAAG	0.547000													3	25					0	0	0.004672	0	0
GLG1	2734	broad.mit.edu	37	16	74537461	74537461	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:74537461G>A	ENST00000422840.2	-	4	741	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	GLG1_ENST00000205061.5_Silent_p.L248L|GLG1_ENST00000447066.2_Silent_p.L237L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	248						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CCACATTTCAGAATGTTGATG	0.378000													6	58					0	0	0.021553	0	0
WFDC3	140686	broad.mit.edu	37	20	44417687	44417687	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:44417687C>G	ENST00000243938.4	-	3	177	c.94G>C	c.(94-96)Gaa>Caa	p.E32Q	WFDC3_ENST00000481847.1_Intron|WFDC3_ENST00000372630.2_Intron|WFDC3_ENST00000372632.2_Missense_Mutation_p.E32Q	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	32	WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				GGAGGGCATTCTCCCTCTTTT	0.522000													9	152					0	0	0.058154	0	0
QRSL1	55278	broad.mit.edu	37	6	107088379	107088379	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:107088379G>C	ENST00000369046.4	+	2	284	c.180G>C	c.(178-180)aaG>aaC	p.K60N	QRSL1_ENST00000467262.1_3'UTR|QRSL1_ENST00000369044.1_Missense_Mutation_p.K60N	NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	60					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		AGAGATATAAGAATGGTAAAT	0.333000													4	32					0	0	0.009096	0	0
SEZ6L	23544	broad.mit.edu	37	22	26689003	26689003	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:26689003G>A	ENST00000529632.2	+	2	922	c.726G>A	c.(724-726)ctG>ctA	p.L242L	SEZ6L_ENST00000404234.3_Silent_p.L242L|SEZ6L_ENST00000360929.3_Silent_p.L242L|SEZ6L_ENST00000248933.6_Silent_p.L242L|SEZ6L_ENST00000343706.4_Silent_p.L242L|SEZ6L_ENST00000403121.1_Silent_p.L15L|SEZ6L_ENST00000402979.1_Silent_p.L15L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	242						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCATGGCCCTGATGGACAAAG	0.637000													7	92					0	0	0.038147	0	0
F11	2160	broad.mit.edu	37	4	187197021	187197021	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:187197021C>T	ENST00000264692.4	+	6	743	c.410C>T	c.(409-411)tCa>tTa	p.S137L	F11_ENST00000403665.2_Missense_Mutation_p.S189L			P03951	FA11_HUMAN	coagulation factor XI	189	Apple 2.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TCTGGATTTTCACTGAAATCC	0.373000													10	31					0	0	0.058154	0	0
FAM73A	374986	broad.mit.edu	37	1	78326964	78326964	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:78326964C>T	ENST00000370791.3	+	12	1363	c.1331C>T	c.(1330-1332)aCc>aTc	p.T444I	FAM73A_ENST00000443751.2_Missense_Mutation_p.T406I	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	444						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TTAGAGCAGACCGATCACTGG	0.299000													12	15					0	0	0.093190	0	0
SLC6A5	9152	broad.mit.edu	37	11	20658768	20658768	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:20658768G>C	ENST00000525748.1	+	12	2061	c.1788G>C	c.(1786-1788)aaG>aaC	p.K596N	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	596					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGTTTCCCAAGTACCTACGCA	0.488000													11	47					0	0	0.105934	0	0
WAC	51322	broad.mit.edu	37	10	28905115	28905115	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:28905115C>G	ENST00000375664.3	+	12	2044	c.1435C>G	c.(1435-1437)Cca>Gca	p.P479A	WAC_ENST00000375646.1_Missense_Mutation_p.P372A|WAC_ENST00000347934.4_Missense_Mutation_p.P421A|WAC_ENST00000354911.4_Missense_Mutation_p.P524A			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	524					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CCAGAGAAGTCCATCACCTGG	0.378000													4	77					0	0	0.014758	0	0
BRCA1	672	broad.mit.edu	37	17	41199690	41199690	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:41199690C>G	ENST00000309486.4	-	21	5576	c.4549G>C	c.(4549-4551)Gat>Cat	p.D1517H	BRCA1_ENST00000586385.1_Missense_Mutation_p.D123H|BRCA1_ENST00000471181.2_Missense_Mutation_p.D1834H|BRCA1_ENST00000468300.1_Missense_Mutation_p.R684T|BRCA1_ENST00000357654.3_Missense_Mutation_p.D1813H|BRCA1_ENST00000491747.2_Missense_Mutation_p.D709H|BRCA1_ENST00000591849.1_Missense_Mutation_p.D46H|BRCA1_ENST00000493795.1_Missense_Mutation_p.D1766H|BRCA1_ENST00000351666.3_Missense_Mutation_p.D630H|BRCA1_ENST00000591534.1_Missense_Mutation_p.D304H|BRCA1_ENST00000352993.3_Missense_Mutation_p.D671H|BRCA1_ENST00000346315.3_Missense_Mutation_p.D1574H|BRCA1_ENST00000354071.3_Missense_Mutation_p.D1548H	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1813					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTCCAGGCATCTGGCTGCACA	0.483000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			7	111					0	0	0.047766	0	0
BUB1	699	broad.mit.edu	37	2	111395586	111395586	+	Silent	SNP	A	A	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:111395586A>G	ENST00000535254.1	-	24	3220	c.3153T>C	c.(3151-3153)aaT>aaC	p.N1051N	BUB1_ENST00000409311.1_Silent_p.N1014N|BUB1_ENST00000302759.6_Silent_p.N1071N	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	1071	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CAATTAGCCTATTACGTAGGG	0.343000													11	191					0	0	0.093190	0	0
KRT33B	3884	broad.mit.edu	37	17	39521737	39521737	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:39521737C>T	ENST00000251646.3	-	4	706	c.657G>A	c.(655-657)gtG>gtA	p.V219V		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	219	Linker 12.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GGTTCAGGTCCACAGCGGGAG	0.572000													30	66					0	0	0.059317	0	0
PTPRC	5788	broad.mit.edu	37	1	198723398	198723398	+	Splice_Site	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:198723398G>T	ENST00000367376.2	+	32	3675	c.3503_splice	c.e32-1	p.R1168_splice	PTPRC_ENST00000352140.3_Splice_Site_p.R1120_splice|PTPRC_ENST00000348564.6_Splice_Site_p.R1009_splice|PTPRC_ENST00000594404.1_Splice_Site_p.R1007_splice|PTPRC_ENST00000442510.2_Splice_Site_p.R1170_splice	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1168	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCTTTTATAGGGATGGATCTC	0.328000													5	66					0.00116845	0.00124859	0.021553	1	0
EFCAB4B	84766	broad.mit.edu	37	12	3763384	3763384	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:3763384T>C	ENST00000440314.2	-	10	1513	c.1040A>G	c.(1039-1041)aAg>aGg	p.K347R	EFCAB4B_ENST00000252322.1_Missense_Mutation_p.K347R|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.K347R	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	347					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCACATCTCCTTCTCTTGGTG	0.612000													6	71					0	0	0.029380	0	0
TMCC1	23023	broad.mit.edu	37	3	129389319	129389319	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:129389319C>G	ENST00000393238.3	-	4	1705	c.1365G>C	c.(1363-1365)caG>caC	p.Q455H	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q276H|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q341H|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q131H	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	455						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						ATCCTGAGCTCTGCATGTCCA	0.512000													12	118					0	0	0.105934	0	0
OR2T1	26696	broad.mit.edu	37	1	248569465	248569465	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:248569465C>A	ENST00000366474.1	+	1	170	c.170C>A	c.(169-171)aCa>aAa	p.T57K		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			GAGTACAACACATCCTCTACA	0.403000													20	103					1.01871e-10	1.27555e-10	0.049695	1	0
OBSCN	84033	broad.mit.edu	37	1	228509487	228509487	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:228509487A>T	ENST00000570156.2	+	66	17890	c.17816A>T	c.(17815-17817)cAc>cTc	p.H5939L	OBSCN_ENST00000366707.4_Missense_Mutation_p.H2616L|OBSCN_ENST00000284548.11_Missense_Mutation_p.H4982L|OBSCN_ENST00000422127.1_Missense_Mutation_p.H4982L|OBSCN_ENST00000366709.4_Missense_Mutation_p.H2101L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4982	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGTGACCCACAGTGCCTGT	0.632000													8	18					0	0	0.047766	0	0
ECHDC1	55862	broad.mit.edu	37	6	127636043	127636043	+	Splice_Site	SNP	T	T	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:127636043T>C	ENST00000531967.1	-	5	938		c.e5-2		ECHDC1_ENST00000528402.1_Splice_Site|ECHDC1_ENST00000454591.2_Splice_Site|ECHDC1_ENST00000368289.2_Splice_Site|ECHDC1_ENST00000368291.2_Splice_Site|ECHDC1_ENST00000430841.2_Splice_Site|ECHDC1_ENST00000454859.3_Splice_Site|ECHDC1_ENST00000309620.9_Splice_Site_p.R122_splice|ECHDC1_ENST00000474289.2_Splice_Site	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1								catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		AAAGGAAGTCTGTATATTGAA	0.299000													14	82					0	0	0.020292	0	0
PDE1C	5137	broad.mit.edu	37	7	31829870	31829870	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:31829870G>A	ENST00000396184.3	-	18	2099	c.1895C>T	c.(1894-1896)tCa>tTa	p.S632L	PDE1C_ENST00000396191.1_Intron|PDE1C_ENST00000321453.7_Intron|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000396182.2_Missense_Mutation_p.S632L|PDE1C_ENST00000396193.1_Intron	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	632					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTACTCTTGTGAATCTGAAAA	0.443000													5	95					0	0	0.021553	0	0
ZNF569	148266	broad.mit.edu	37	19	37904467	37904467	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:37904467G>A	ENST00000316950.6	-	6	1650	c.1093C>T	c.(1093-1095)Cag>Tag	p.Q365*	ZNF569_ENST00000392150.2_Nonsense_Mutation_p.Q206*|ZNF569_ENST00000392149.2_Nonsense_Mutation_p.Q365*	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGGAAAACTGAGAGAAGGCT	0.383000													30	72					0	0	0.030593	0	0
HOXC13	3229	broad.mit.edu	37	12	54338903	54338903	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:54338903A>T	ENST00000243056.3	+	2	1012	c.856A>T	c.(856-858)Acc>Tcc	p.T286S		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	286						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						CAAGTTCATCACCAAAGAGAA	0.592000			T	NUP98	AML								16	82					0	0	0.038395	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55624154	55624154	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:55624154C>A	ENST00000263433.3	-	2	346	c.331G>T	c.(331-333)Gat>Tat	p.D111Y	PPP1R12C_ENST00000376393.2_Missense_Mutation_p.D111Y|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.D37Y	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	111						cytoplasm		p.D111N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		AGGTTCTCATCAATGCAGGCC	0.647000													11	33					3.07112e-06	3.53167e-06	0.080935	1	0
PTENP1	11191	broad.mit.edu	37	9	33676499	33676499	+	RNA	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:33676499C>T	ENST00000532280.1	-	0	998					NR_023917.1																						ACTACATCATCAATATTGTTC	0.348000													4	52					0	0	0.009096	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69053210	69053210	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:69053210A>T	ENST00000295381.3	+	11	2241	c.1822A>T	c.(1822-1824)Atc>Ttc	p.I608F	ARHGAP25_ENST00000409220.1_Missense_Mutation_p.I602F|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.I609F|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.I569F|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.I601F|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.I302F	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	608					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGCCCTAGAGATCAGCCTCCG	0.478000													20	355					0	0	0.083992	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013508	149013508	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:149013508C>T	ENST00000535454.1	+	4	1011	c.462C>T	c.(460-462)ttC>ttT	p.F154F	MAGEA8_ENST00000286482.1_Silent_p.F154F|MAGEA8_ENST00000542674.1_Silent_p.F154F	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	154	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CTGATATCTTCAGCAAAGCCT	0.483000													7	42					0	0	0.029380	0	0
STARD13	90627	broad.mit.edu	37	13	33684072	33684072	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:33684072C>T	ENST00000336934.5	-	12	3101	c.2985G>A	c.(2983-2985)gaG>gaA	p.E995E	STARD13_ENST00000255486.4_Silent_p.E987E|STARD13_ENST00000399365.3_Silent_p.E877E	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	995	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		ACTGGTAGATCTCTGTTTGCC	0.532000											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	63					0	0	0.080935	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110502186	110502186	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:110502186G>T	ENST00000378402.5	+	60	9990	c.9886G>T	c.(9886-9888)Gca>Tca	p.A3296S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3296					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			CTTAGGAAATGCAAGAATAAG	0.328000										HNSCC(38;0.096)			5	27					1.23904e-05	1.39028e-05	0.014758	1	0
ASPH	444	broad.mit.edu	37	8	62465608	62465608	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:62465608C>G	ENST00000541428.1	-	20	1681	c.1521G>C	c.(1519-1521)caG>caC	p.Q507H	ASPH_ENST00000379454.4_Missense_Mutation_p.Q536H	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	536					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TCCCAACCCTCTGCATGGCAT	0.418000													14	341					0	0	0.024245	0	0
WDR7	23335	broad.mit.edu	37	18	54398738	54398738	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr18:54398738G>A	ENST00000254442.3	+	14	2110	c.1899G>A	c.(1897-1899)acG>acA	p.T633T	WDR7_ENST00000357574.3_Silent_p.T633T|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	633										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AAGCTATGACGAGACGTAGTC	0.428000													8	65					0	0	0.038147	0	0
ITGA3	3675	broad.mit.edu	37	17	48151853	48151853	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:48151853C>G	ENST00000320031.8	+	10	1754	c.1424C>G	c.(1423-1425)cCc>cGc	p.P475R	ITGA3_ENST00000007722.7_Missense_Mutation_p.P475R|ITGA3_ENST00000544892.1_Missense_Mutation_p.P250R	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	475					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						ACCTTGGTGCCCAGGCCAGCT	0.587000													3	30					0	0	0.004672	0	0
WDFY3	23001	broad.mit.edu	37	4	85623505	85623505	+	Splice_Site	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:85623505C>A	ENST00000322366.6	-	55	8953		c.e55+1		WDFY3_ENST00000295888.4_Splice_Site			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3							cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCTCTACGTACCTAGATCAAA	0.378000													10	71					3.07112e-06	3.53167e-06	0.080935	1	0
RYR1	6261	broad.mit.edu	37	19	38968507	38968507	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:38968507G>T	ENST00000355481.4	+	30	4582	c.4451G>T	c.(4450-4452)aGc>aTc	p.S1484I	RYR1_ENST00000359596.3_Missense_Mutation_p.S1484I|RYR1_ENST00000360985.3_Missense_Mutation_p.S1484I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1484	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AACGTCCACAGCAGGTGCCGG	0.652000													15	96					6.94344e-10	8.60661e-10	0.038395	1	0
LST3	0	broad.mit.edu	37	12	21207494	21207494	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:21207494G>A	ENST00000381541.3	+	11	1671	c.1606G>A	c.(1606-1608)Gtt>Att	p.V536I	SLCO1B7_ENST00000421593.2_Missense_Mutation_p.V489I|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.V536I|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron																							GAAATCTTACGTTTATTTTGT	0.383000													4	35					0	0	0.009096	0	0
CFHR1	3078	broad.mit.edu	37	1	196794678	196794678	+	Missense_Mutation	SNP	C	C	A	rs146147352		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:196794678C>A	ENST00000320493.5	+	2	218	c.130C>A	c.(130-132)Cag>Aag	p.Q44K	CFHR1_ENST00000367424.3_Missense_Mutation_p.Q44K|CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000498248.1_3'UTR	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	44	Sushi 1.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GCCATTTTCCCAGGTTCCTAC	0.328000													15	28					7.93312e-07	9.28144e-07	0.020292	1	0
USP6	9098	broad.mit.edu	37	17	5042598	5042598	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:5042598G>T	ENST00000574788.1	+	22	3357	c.1127G>T	c.(1126-1128)cGt>cTt	p.R376L	USP6_ENST00000332776.4_Missense_Mutation_p.R376L|USP6_ENST00000304328.5_Missense_Mutation_p.R59L|USP6_ENST00000250066.6_Missense_Mutation_p.R376L			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	376					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCGGCTTCACGTGGTGGGAAG	0.627000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								6	14					5.4927e-09	6.7128e-09	0.047766	1	0
TOX4	9878	broad.mit.edu	37	14	21963405	21963405	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:21963405G>A	ENST00000405508.1	+	9	1935	c.1659G>A	c.(1657-1659)caG>caA	p.Q553Q	TOX4_ENST00000262709.3_Silent_p.Q553Q|TOX4_ENST00000448790.2_Silent_p.Q530Q			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	553						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CTCCTTCTCAGATGGATGTTG	0.483000													7	98					0	0	0.047766	0	0
FGD5	152273	broad.mit.edu	37	3	14862090	14862090	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:14862090G>A	ENST00000285046.5	+	1	1622	c.1512G>A	c.(1510-1512)gaG>gaA	p.E504E	FGD5_ENST00000543601.1_Silent_p.E263E	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	504					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCGGACCTGAGGCGGGCTCGT	0.637000													15	12					0	0	0.028581	0	0
GEMIN7	79760	broad.mit.edu	37	19	45593435	45593435	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:45593435C>T	ENST00000270257.4	+	3	310	c.63C>T	c.(61-63)ttC>ttT	p.F21F	CTB-179K24.4_ENST00000586744.1_RNA|CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000591747.1_Silent_p.F21F|GEMIN7_ENST00000591607.1_Silent_p.F21F|GEMIN7_ENST00000391951.2_Silent_p.F21F	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	21					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		CTGATGGCTTCAGCCGTGGCT	0.577000													7	50					0	0	0.029380	0	0
BRS3	680	broad.mit.edu	37	X	135574131	135574131	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:135574131G>A	ENST00000370648.3	+	3	1025	c.797G>A	c.(796-798)cGa>cAa	p.R266Q		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	266					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ATTGAATCCCGAAAGAGAATT	0.363000													8	16					0	0	0.058154	0	0
TIMD4	91937	broad.mit.edu	37	5	156378570	156378570	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:156378570C>A	ENST00000274532.2	-	3	688	c.632G>T	c.(631-633)gGt>gTt	p.G211V	TIMD4_ENST00000407087.3_Missense_Mutation_p.G211V	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	211	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTCAGAAGACCTGTGGCTTC	0.527000													19	52					3.6726e-16	4.81013e-16	0.091800	1	0
EXOSC3	51010	broad.mit.edu	37	9	37780858	37780858	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:37780858C>T	ENST00000327304.5	-	4	658	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	EXOSC3_ENST00000490516.1_5'UTR|RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000396521.3_Silent_p.*165*	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	216					CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		TGTATGATTTCACAATCTGGA	0.388000													3	13					0	0	0.014758	0	0
TOPBP1	11073	broad.mit.edu	37	3	133342989	133342989	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:133342989G>A	ENST00000260810.5	-	17	2966	c.2835C>T	c.(2833-2835)ttC>ttT	p.F945F		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	945	BRCT 6.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CTTGATAGATGAAATGAGTCA	0.353000								Other conserved DNA damage response genes					26	162					0	0	0.034045	0	0
COASY	80347	broad.mit.edu	37	17	40716076	40716076	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:40716076C>T	ENST00000393818.2	+	2	1254	c.798C>T	c.(796-798)gtC>gtT	p.V266V	COASY_ENST00000590958.1_Silent_p.V295V|COASY_ENST00000421097.2_Silent_p.V266V|COASY_ENST00000449624.1_5'UTR|COASY_ENST00000420359.1_Silent_p.V266V	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	266	Phosphopantetheine adenylyltransferase.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CTTTTGATGTCATCCCCCTGC	0.577000													5	22					0	0	0.014758	0	0
ELL2	22936	broad.mit.edu	37	5	95242433	95242433	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:95242433C>G	ENST00000237853.4	-	5	884	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	ELL2_ENST00000431061.2_Intron|ELL2_ENST00000506628.1_5'UTR	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	179					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CTTTTCCTCTCAGGAACTGTA	0.448000													5	57					0	0	0.021553	0	0
GNG11	2791	broad.mit.edu	37	7	93555431	93555431	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:93555431A>T	ENST00000248564.4	+	2	564	c.125A>T	c.(124-126)aAc>aTc	p.N42I		NM_004126.3	NP_004117.1	P61952	GBG11_HUMAN	guanine nucleotide binding protein (G protein), gamma 11	42					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			breast(1)|central_nervous_system(1)|kidney(1)|lung(2)|skin(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GAAATAAAGAACTATATTGAA	0.333000													7	51					0	0	0.038147	0	0
NLRC4	58484	broad.mit.edu	37	2	32475389	32475389	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:32475389T>A	ENST00000404025.2	-	5	2032	c.1544A>T	c.(1543-1545)cAc>cTc	p.H515L	NLRC4_ENST00000402280.1_Missense_Mutation_p.H515L|NLRC4_ENST00000360906.5_Missense_Mutation_p.H515L|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	515					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AAGGCAGCCGTGTTGATACAC	0.512000													20	65					0	0	0.083992	0	0
MATN3	4148	broad.mit.edu	37	2	20205840	20205840	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:20205840C>T	ENST00000407540.3	-	2	517	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	MATN3_ENST00000421259.2_Missense_Mutation_p.R152Q	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	152	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTGTGATTCGACCCACGGC	0.572000													6	61					0	0	0.029380	0	0
CAPS2	84698	broad.mit.edu	37	12	75676059	75676059	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:75676059A>C	ENST00000393284.3	-	16	1546	c.945T>G	c.(943-945)tgT>tgG	p.C315W	CAPS2_ENST00000442339.2_Missense_Mutation_p.C137W|CAPS2_ENST00000409445.3_Missense_Mutation_p.C547W|CAPS2_ENST00000409799.1_Missense_Mutation_p.C465W|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409004.1_5'UTR			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	547							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GCTTCTTTGCACAGTAACATT	0.269000													18	47					0	0	0.049695	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967053	58967053	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:58967053G>A	ENST00000391696.1	+	3	1644	c.712G>A	c.(712-714)Gag>Aag	p.E238K	ZNF324B_ENST00000545523.1_Missense_Mutation_p.E248K|ZNF324B_ENST00000336614.4_Missense_Mutation_p.E248K			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGAGCTGGGCGAGGCTCTTCA	0.647000													3	15					0	0	0.004672	0	0
SREBF2	6721	broad.mit.edu	37	22	42264729	42264729	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:42264729G>C	ENST00000361204.4	+	3	819	c.653G>C	c.(652-654)gGc>gCc	p.G218A		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	218	Gln-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ACGGCCAATGGCACGCTGCAG	0.622000													5	18					0	0	0.069234	0	0
FCRL5	83416	broad.mit.edu	37	1	157509113	157509113	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:157509113C>T	ENST00000361835.3	-	7	1322	c.1165G>A	c.(1165-1167)Gac>Aac	p.D389N	FCRL5_ENST00000368189.3_Missense_Mutation_p.D389N|FCRL5_ENST00000368191.3_Missense_Mutation_p.D304N|FCRL5_ENST00000368190.3_Missense_Mutation_p.D389N|FCRL5_ENST00000356953.4_Missense_Mutation_p.D389N	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	389	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AAAATCAGGTCCTCAGGAGAG	0.488000													8	124					0	0	0.038147	0	0
WBSCR27	155368	broad.mit.edu	37	7	73249273	73249273	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:73249273G>C	ENST00000297873.4	-	6	587	c.538C>G	c.(538-540)Ctg>Gtg	p.L180V		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	180										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				GTGGCCTCCAGAGCCTCCTTG	0.667000													4	9					0	0	0.014758	0	0
THBS2	7058	broad.mit.edu	37	6	169629765	169629765	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:169629765G>T	ENST00000366787.3	-	15	2410	c.2161C>A	c.(2161-2163)Ccc>Acc	p.P721T	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	721					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGCAGATGGGGGCAGTTATCC	0.488000													11	33					3.86212e-05	4.2816e-05	0.069234	1	0
IGHV3-64	28414	broad.mit.edu	37	14	107114175	107114175	+	RNA	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:107114175C>A	ENST00000454421.2	-	0	99																											AAGGAAAACCCAGCTCAGCCC	0.473000													35	86					1.57019e-19	2.08234e-19	0.098360	1	0
MARS2	92935	broad.mit.edu	37	2	198571382	198571382	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:198571382C>G	ENST00000282276.6	+	1	1296	c.1253C>G	c.(1252-1254)tCt>tGt	p.S418C	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	418					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	ATAAATCCTTCTGAGACCTAC	0.527000													8	83					0	0	0.038147	0	0
MSH2	4436	broad.mit.edu	37	2	47690168	47690168	+	Splice_Site	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:47690168A>T	ENST00000406134.1	+	9	1448		c.e9-1		MSH2_ENST00000233146.2_Splice_Site|MSH2_ENST00000543555.1_Splice_Site			P43246	MSH2_HUMAN	mutS homolog 2						B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCTGTTTGCAGGTGGAAAAC	0.308000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				8	42					0	0	0.038147	0	0
XPOT	11260	broad.mit.edu	37	12	64828639	64828639	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:64828639C>T	ENST00000332707.5	+	21	3164	c.2635C>T	c.(2635-2637)Cta>Tta	p.L879L		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	879	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CGCATGTTTCCTAGCACCTTT	0.378000													25	138					0	0	0.054565	0	0
C6orf211	79624	broad.mit.edu	37	6	151779592	151779592	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:151779592G>A	ENST00000367294.3	+	3	536	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	C6orf211_ENST00000545879.1_5'UTR|C6orf211_ENST00000483931.1_3'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	93							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TCAGTACCTAGAATATCAACA	0.343000													7	23					0	0	0.038147	0	0
OR13C9	286362	broad.mit.edu	37	9	107379756	107379756	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:107379756G>A	ENST00000259362.1	-	1	729	c.730C>T	c.(730-732)Cat>Tat	p.H244Y		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						ACAGTCAGATGGGCTGAGCAG	0.423000													25	57					0	0	0.037714	0	0
ALMS1	7840	broad.mit.edu	37	2	73717355	73717355	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:73717355G>T	ENST00000264448.6	+	10	8377	c.8266G>T	c.(8266-8268)Gaa>Taa	p.E2756*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.E2714*	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2756					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.E2756K(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTTCACTGAAGAACAAAATCC	0.368000													6	135					2.7689e-08	3.34801e-08	0.029380	1	0
ZNF876P	642280	broad.mit.edu	37	4	206432	206432	+	RNA	SNP	A	A	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:206432A>G	ENST00000356347.3	+	0	34					NR_027481.1																						GAGCTCGGTTAGGGCCTCACC	0.632000													3	16					0	0	0.004672	0	0
MLXIPL	51085	broad.mit.edu	37	7	73010570	73010570	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:73010570C>T	ENST00000313375.3	-	13	2018	c.1971G>A	c.(1969-1971)gcG>gcA	p.A657A	MLXIPL_ENST00000434326.1_Silent_p.A563A|MLXIPL_ENST00000429400.2_Silent_p.A657A|MLXIPL_ENST00000395189.1_Silent_p.A564A|MLXIPL_ENST00000354613.1_Silent_p.A655A|MLXIPL_ENST00000414749.2_Silent_p.A655A	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	657					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCTTCTGCTCCGCGGAGATGT	0.632000													6	26					0	0	0.029380	0	0
DHX32	55760	broad.mit.edu	37	10	127540983	127540983	+	Silent	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:127540983G>C	ENST00000284690.3	-	6	1720	c.1230C>G	c.(1228-1230)tcC>tcG	p.S410S	DHX32_ENST00000368721.1_Silent_p.S34S|DHX32_ENST00000284688.6_Silent_p.S329S|BCCIP_ENST00000368759.5_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	410						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCATGTCTTTGGAGGCAAATT	0.428000													6	50					0	0	0.029380	0	0
LCP1	3936	broad.mit.edu	37	13	46718607	46718607	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:46718607C>A	ENST00000398576.2	-	14	1611	c.1223G>T	c.(1222-1224)gGt>gTt	p.G408V	LCP1_ENST00000323076.2_Missense_Mutation_p.G408V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	408	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		AGGGTTAACACCCAGGGAGTT	0.413000			T	BCL6	NHL								17	52					5.01169e-05	5.54772e-05	0.033300	1	0
RALGAPA1	253959	broad.mit.edu	37	14	36194252	36194252	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:36194252C>T	ENST00000258840.6	-	14	2234	c.1844G>A	c.(1843-1845)cGa>cAa	p.R615Q	RALGAPA1_ENST00000389698.3_Missense_Mutation_p.R615Q|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.R615Q|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.R615Q|RALGAPA1_ENST00000554704.1_5'UTR			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	615					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCTGCAAGTCGACCTGCCAA	0.373000													3	39					0	0	0.004672	0	0
ANKFN1	162282	broad.mit.edu	37	17	54558094	54558094	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:54558094C>T	ENST00000566473.2	+	16	2015	c.2015C>T	c.(2014-2016)tCt>tTt	p.S672F	ANKFN1_ENST00000318698.2_Missense_Mutation_p.S672F			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	672										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GATCATACTTCTGACTGCCCC	0.413000													15	160					0	0	0.033300	0	0
SFSWAP	6433	broad.mit.edu	37	12	132262741	132262741	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:132262741G>C	ENST00000261674.4	+	14	2415	c.2274G>C	c.(2272-2274)aaG>aaC	p.K758N	SFSWAP_ENST00000541286.1_Missense_Mutation_p.K758N	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	758	Poly-Lys.				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AAAAGAAAAAGAAAAAGCACA	0.438000													3	34					0	0	0.004672	0	0
OR4C11	219429	broad.mit.edu	37	11	55371693	55371693	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:55371693G>T	ENST00000302231.4	-	1	181	c.157C>A	c.(157-159)Cta>Ata	p.L53I		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GGGCTTCCTAGTGTCCGGCTG	0.403000													18	74					1.37522e-17	1.81079e-17	0.043863	1	0
HLA-E	3133	broad.mit.edu	37	6	30460194	30460194	+	Silent	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:30460194G>C	ENST00000376630.4	+	6	1082	c.1017G>C	c.(1015-1017)ggG>ggC	p.G339G		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	339					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						GAAAAGGAGGGAGCTACTCTA	0.577000													5	110					0	0	0.029380	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46946097	46946097	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:46946097G>C	ENST00000429979.1	-	3	1118	c.514C>G	c.(514-516)Ctg>Gtg	p.L172V	KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.L172V|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.L172V|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.L37V|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.L172V|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.L172V|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.L105V|KIAA0226L_ENST00000322896.6_Intron	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	172										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GCAGATGTCAGATGGGAAGGC	0.512000													4	66					0	0	0.009096	0	0
MAP3K12	7786	broad.mit.edu	37	12	53876154	53876154	+	Splice_Site	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:53876154C>G	ENST00000267079.2	-	13	2365		c.e13-1		MAP3K12_ENST00000547035.1_Splice_Site|MAP3K12_ENST00000547488.1_Splice_Site	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TGCCACGTTTCTGCAGGAGAG	0.483000													25	95					0	0	0.083992	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144946727	144946727	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:144946727C>T	ENST00000369359.4	-	8	983	c.945G>A	c.(943-945)ctG>ctA	p.L315L	PDE4DIP_ENST00000313382.9_Silent_p.L244L|PDE4DIP_ENST00000369349.3_Silent_p.L178L|PDE4DIP_ENST00000369351.3_Silent_p.L178L|PDE4DIP_ENST00000530740.1_Silent_p.L315L|PDE4DIP_ENST00000369354.3_Silent_p.L178L|PDE4DIP_ENST00000369356.4_Silent_p.L178L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	178					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGCTCTGATTCAGTTCTTCAA	0.423000			T	PDGFRB	MPD								17	67					0	0	0.038395	0	0
A2ML1	144568	broad.mit.edu	37	12	9010579	9010579	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:9010579C>T	ENST00000299698.7	+	26	3325	c.3145C>T	c.(3145-3147)Cag>Tag	p.Q1049*	A2ML1_ENST00000539547.1_Nonsense_Mutation_p.Q558*	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	893						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TGGCCAAGCTCAGAAATTCAT	0.468000													11	68					0	0	0.080935	0	0
ZFR	51663	broad.mit.edu	37	5	32404184	32404184	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:32404184C>T	ENST00000265069.8	-	7	1153	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	351					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTCTGTCCTTCTAAATGTTCT	0.323000													7	106					0	0	0.038147	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846857	47846857	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:47846857G>A	ENST00000339488.4	-	3	1756	c.1723C>T	c.(1723-1725)Ctg>Ttg	p.L575L		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	575						integral to membrane	hedgehog receptor activity										GAGCTTTGCAGGACACTGATG	0.433000													16	30					0	0	0.033300	0	0
ZNF260	339324	broad.mit.edu	37	19	37005960	37005960	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:37005960C>A	ENST00000523638.1	-	3	1302	c.181G>T	c.(181-183)Ggt>Tgt	p.G61C	ZNF260_ENST00000592282.1_Missense_Mutation_p.G61C|ZNF260_ENST00000593142.1_Missense_Mutation_p.G61C|ZNF260_ENST00000588993.1_Missense_Mutation_p.G61C	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	61					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					CACACTTTACCACATTCAGTG	0.373000													56	57					2.5401e-28	3.4841e-28	0.048971	1	0
CUL9	23113	broad.mit.edu	37	6	43190077	43190077	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:43190077G>C	ENST00000252050.4	+	36	6954	c.6870G>C	c.(6868-6870)gaG>gaC	p.E2290D	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.E2262D|CUL9_ENST00000354495.3_Missense_Mutation_p.E2180D	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2290					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTCGCCAGGAGAAGCGGTTTC	0.532000													51	123					0	0	0.048971	0	0
ZNF69	7620	broad.mit.edu	37	19	12015468	12015468	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:12015468C>G	ENST00000429654.2	+	4	396	c.256C>G	c.(256-258)Ctc>Gtc	p.L86V	ZNF69_ENST00000340180.5_Missense_Mutation_p.L72V			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	86	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		TGACAGGAGTCTCATAGAAAA	0.348000													4	67					0	0	0.014758	0	0
PRLR	5618	broad.mit.edu	37	5	35086356	35086356	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:35086356C>G	ENST00000382002.5	-	4	583	c.157G>C	c.(157-159)Gat>Cat	p.D53H	PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Missense_Mutation_p.D53H|PRLR_ENST00000310101.5_Missense_Mutation_p.D53H|PRLR_ENST00000231423.3_Missense_Mutation_p.D53H|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000542609.1_Missense_Mutation_p.D53H|PRLR_ENST00000513753.1_Missense_Mutation_p.D53H|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000509934.1_5'UTR	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	53	Fibronectin type-III 1.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGTCCTCCATCTGTCCCAGGC	0.468000													8	153					0	0	0.038147	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368537	86368537	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:86368537C>A	ENST00000400286.2	-	2	2705	c.2107G>T	c.(2107-2109)Gaa>Taa	p.E703*		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	703						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTCTCTTCTTCCTCTTCCAGA	0.433000													9	106					9.70103e-10	1.19946e-09	0.069234	1	0
WAC	51322	broad.mit.edu	37	10	28884967	28884967	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:28884967A>C	ENST00000375664.3	+	7	1390	c.781A>C	c.(781-783)Aaa>Caa	p.K261Q	WAC_ENST00000375646.1_Intron|WAC_ENST00000347934.4_Intron|WAC_ENST00000354911.4_Missense_Mutation_p.K306Q|WAC_ENST00000428935.1_Missense_Mutation_p.K261Q			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	306					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AACAGAAAGAAAAGGTATGCC	0.353000													6	111					0	0	0.021553	0	0
CHSY3	337876	broad.mit.edu	37	5	129521162	129521162	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:129521162G>C	ENST00000305031.4	+	3	2685	c.2327G>C	c.(2326-2328)aGa>aCa	p.R776T		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	776						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GGATTTTGGAGAGACTATGGA	0.408000													5	99					0	0	0.021553	0	0
CTGF	1490	broad.mit.edu	37	6	132271100	132271100	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:132271100C>T	ENST00000367976.3	-	4	942	c.742G>A	c.(742-744)Gag>Aag	p.E248K		NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN	connective tissue growth factor	248	Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		TTAATGTTCTCTTCCAGGTCA	0.498000											OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	22					0	0	0.021553	0	0
GCSAML	148823	broad.mit.edu	37	1	247737459	247737459	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:247737459C>A	ENST00000366491.2	+	7	620	c.123C>A	c.(121-123)ggC>ggA	p.G41G	RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000536561.1_Silent_p.G41G|GCSAML_ENST00000527541.1_Silent_p.G29G|GCSAML_ENST00000366488.4_Silent_p.G61G|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000366489.1_Silent_p.G41G|GCSAML_ENST00000463359.1_Silent_p.G29G|GCSAML_ENST00000527084.1_Silent_p.G29G					germinal center-associated, signaling and motility-like																		ACGAGAATGGCAGTGGTTCTG	0.433000													43	98					7.05121e-23	9.51303e-23	0.039052	1	0
HPX	3263	broad.mit.edu	37	11	6461729	6461729	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:6461729A>T	ENST00000265983.3	-	3	282	c.182T>A	c.(181-183)cTg>cAg	p.L61Q	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	61	Hemopexin-like 1.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		ATTGTCATCCAGGGTGGTAGC	0.428000													49	176					0	0	0.048971	0	0
SPATA18	132671	broad.mit.edu	37	4	52944959	52944959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:52944959C>A	ENST00000295213.4	+	8	1453	c.1079C>A	c.(1078-1080)tCg>tAg	p.S360*	SPATA18_ENST00000419395.2_Nonsense_Mutation_p.S328*	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	360					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTGAGAAAATCGTTGACACCA	0.378000													33	116					7.04047e-22	9.46403e-22	0.080422	1	0
TMEM100	55273	broad.mit.edu	37	17	53798105	53798105	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:53798105C>T	ENST00000575734.1	-	4	1135	c.327G>A	c.(325-327)gtG>gtA	p.V109V	TMEM100_ENST00000424486.2_Silent_p.V109V	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	109						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						TCCTTTGTCTCACTTTCCAGC	0.468000													43	211					0	0	0.048971	0	0
PCDH20	64881	broad.mit.edu	37	13	61985377	61985377	+	Nonstop_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:61985377C>G	ENST00000409186.1	-	5	4960	c.2855G>C	c.(2854-2856)tGa>tCa	p.*952S	PCDH20_ENST00000409204.4_Nonstop_Mutation_p.*952S			Q8N6Y1	PCD20_HUMAN	protocadherin 20	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CATGAAATATCAAATATTAGA	0.363000													3	40					0	0	0.004672	0	0
TRPC4	7223	broad.mit.edu	37	13	38357400	38357400	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:38357400C>G	ENST00000379705.3	-	2	928	c.71G>C	c.(70-72)aGa>aCa	p.R24T	TRPC4_ENST00000338947.5_Missense_Mutation_p.R24T|TRPC4_ENST00000379673.2_Missense_Mutation_p.R24T|TRPC4_ENST00000426868.2_Missense_Mutation_p.R24T|TRPC4_ENST00000358477.2_Missense_Mutation_p.R24T|TRPC4_ENST00000447043.1_Missense_Mutation_p.R24T|TRPC4_ENST00000379679.1_Missense_Mutation_p.R24T|TRPC4_ENST00000379681.3_Missense_Mutation_p.R24T|TRPC4_ENST00000355779.2_Missense_Mutation_p.R24T			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	24					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TGATTCTGCTCTTACTATCCT	0.418000													8	97					0	0	0.047766	0	0
EGFR	1956	broad.mit.edu	37	7	55241714	55241714	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:55241714G>T	ENST00000275493.2	+	18	2339	c.2162G>T	c.(2161-2163)gGt>gTt	p.G721V	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.G668V|EGFR_ENST00000455089.1_Missense_Mutation_p.G676V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	721	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G721A(2)|p.G721D(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTGGGCTCCGGTGCGTTCGGC	0.567000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			5	21					0.00116845	0.00124859	0.021553	1	0
ATP8B2	57198	broad.mit.edu	37	1	154318893	154318893	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:154318893G>A	ENST00000368489.3	+	25	3064	c.3064G>A	c.(3064-3066)Gac>Aac	p.D1022N		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1008					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCAGCTGGCTGACTACCAGTC	0.557000													21	121					0	0	0.055883	0	0
TAOK2	9344	broad.mit.edu	37	16	29992976	29992976	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:29992976C>T	ENST00000416441.2	+	1	1304	c.131C>T	c.(130-132)tCt>tTt	p.S44F	TAOK2_ENST00000308893.4_Intron|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Intron			Q9UL54	TAOK2_HUMAN	TAO kinase 2	0	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TCACCTTTTTCTGTAGCTGAA	0.502000													14	107					0	0	0.028581	0	0
ZNF333	84449	broad.mit.edu	37	19	14815883	14815883	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:14815883G>T	ENST00000601134.1	+	4	263	c.145G>T	c.(145-147)Gag>Tag	p.E49*	ZNF333_ENST00000292530.6_Silent_p.L108L|ZNF333_ENST00000536363.1_5'UTR|ZNF333_ENST00000540689.2_Silent_p.L108L			Q96JL9	ZN333_HUMAN	zinc finger protein 333	49	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GGCTGTTCCTGAGGATGCAGC	0.612000													15	19					1.87028e-06	2.1727e-06	0.062417	1	0
CYP20A1	57404	broad.mit.edu	37	2	204157021	204157021	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:204157021G>C	ENST00000356079.4	+	11	1243	c.1120G>C	c.(1120-1122)Gat>Cat	p.D374H	CYP20A1_ENST00000429815.2_Missense_Mutation_p.D382H|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	374						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GGTACTTCAGGATCCTAATAC	0.378000													22	80					0	0	0.099896	0	0
ACACB	32	broad.mit.edu	37	12	109654629	109654629	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:109654629C>T	ENST00000338432.7	+	24	3587	c.3468C>T	c.(3466-3468)ctC>ctT	p.L1156L	ACACB_ENST00000377854.5_Intron|ACACB_ENST00000377848.3_Silent_p.L1156L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1156					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGATAAACCTCAGGGAGCAGT	0.552000													8	42					0	0	0.047766	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959951	157959951	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:157959951G>T	ENST00000389413.3	-	6	685	c.582C>A	c.(580-582)acC>acA	p.T194T	PTPRN2_ENST00000389416.4_Silent_p.T177T|PTPRN2_ENST00000389418.4_Silent_p.T194T|PTPRN2_ENST00000404321.2_Silent_p.T217T|PTPRN2_ENST00000409483.1_Silent_p.T156T	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	194						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGGCCACATAGGTCAGGATGC	0.627000													4	49					0.00909568	0.00950678	0.009096	1	0
SEPT1	1731	broad.mit.edu	37	16	30393197	30393197	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:30393197C>T	ENST00000321367.3	-	5	375	c.330G>A	c.(328-330)ttG>ttA	p.L110L	SEPT1_ENST00000571393.1_Silent_p.L63L|SEPT1_ENST00000605106.1_Silent_p.L68L	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	63					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			GGGTCTGTGTCAAGCGAGCTG	0.567000													67	167					0	0	0.048971	0	0
ITIH2	3698	broad.mit.edu	37	10	7773947	7773947	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:7773947C>T	ENST00000358415.4	+	13	1801	c.1635C>T	c.(1633-1635)atC>atT	p.I545I	ITIH2_ENST00000379587.4_Silent_p.I534I	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	545					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGAGCGTTATCACGGCGACTT	0.438000													18	74					0	0	0.069288	0	0
ZPLD1	131368	broad.mit.edu	37	3	102189268	102189268	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:102189268G>T	ENST00000306176.1	+	9	1112	c.1012G>T	c.(1012-1014)Ggg>Tgg	p.G338W	ZPLD1_ENST00000466937.1_Missense_Mutation_p.G322W|ZPLD1_ENST00000491959.1_Missense_Mutation_p.G322W	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	322						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GAGAGATGCTGGGAGGAGGAC	0.507000													55	75					1.08241e-25	1.47104e-25	0.048971	1	0
PPP2R1B	5519	broad.mit.edu	37	11	111626023	111626023	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:111626023G>A	ENST00000527614.1	-	6	904	c.839C>T	c.(838-840)tCa>tTa	p.S280L	PPP2R1B_ENST00000426998.2_Missense_Mutation_p.S216L|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.S280L|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.S153L|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.S119L|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.S280L	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	280							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CTTTACCTCTGAAAATCTGTC	0.388000													7	33					0	0	0.047766	0	0
MRPL10	124995	broad.mit.edu	37	17	45904481	45904481	+	Silent	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:45904481C>G	ENST00000290208.7	-	3	794	c.342G>C	c.(340-342)ctG>ctC	p.L114L	MRPL10_ENST00000414011.1_Silent_p.L114L|MRPL10_ENST00000351111.2_Silent_p.L104L			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	104					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						CCTCTGCACTCAGAGCCACAT	0.552000													28	198					0	0	0.050027	0	0
ATP13A3	79572	broad.mit.edu	37	3	194181540	194181540	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:194181540C>G	ENST00000439040.1	-	4	863	c.72G>C	c.(70-72)ttG>ttC	p.L24F	ATP13A3_ENST00000256031.4_Missense_Mutation_p.L24F			Q9H7F0	AT133_HUMAN	ATPase type 13A3	24					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TCCAGCGACTCAAATTGTAAC	0.428000													4	66					0	0	0.009096	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749185	79749185	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:79749185C>T	ENST00000305428.3	+	2	771	c.696C>T	c.(694-696)ccC>ccT	p.P232P		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	232						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ACTCCCTGCCCATCAATCAGA	0.493000													6	65					0	0	0.029380	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993803	140993803	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:140993803T>A	ENST00000285879.4	+	4	899	c.613T>A	c.(613-615)Tcc>Acc	p.S205T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	205							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGTGAGCCGCTCCTTCTCCTC	0.483000										HNSCC(15;0.026)			41	203					0	0	0.048971	0	0
ZFP2	80108	broad.mit.edu	37	5	178359027	178359027	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:178359027G>C	ENST00000361362.2	+	5	1243	c.713G>C	c.(712-714)gGa>gCa	p.G238A	ZFP2_ENST00000503510.2_Missense_Mutation_p.G238A|ZFP2_ENST00000523286.1_Missense_Mutation_p.G238A|ZFP2_ENST00000520301.1_Missense_Mutation_p.G238A	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		ACTCATACAGGAGAAAAACCC	0.378000													10	48					0	0	0.080935	0	0
PLOD2	5352	broad.mit.edu	37	3	145804659	145804659	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:145804659C>G	ENST00000282903.5	-	10	1219	c.1042G>C	c.(1042-1044)Gat>Cat	p.D348H	PLOD2_ENST00000494950.1_Missense_Mutation_p.D293H|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000360060.3_Missense_Mutation_p.D348H	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	348					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TTAGCTTTATCAAAAAATACC	0.284000													3	18					0	0	0.014758	0	0
FBLIM1	54751	broad.mit.edu	37	1	16093972	16093972	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:16093972G>A	ENST00000375766.3	+	4	992	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	FBLIM1_ENST00000332305.5_Intron|FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000441801.2_Missense_Mutation_p.E118K|FBLIM1_ENST00000375771.1_Missense_Mutation_p.E118K	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	118	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		TCTGCCTTCTGAAGAGGAGGC	0.662000													3	4					0	0	0.009096	0	0
ALPK1	80216	broad.mit.edu	37	4	113352085	113352085	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:113352085A>T	ENST00000458497.1	+	11	1661	c.1382A>T	c.(1381-1383)cAg>cTg	p.Q461L	ALPK1_ENST00000504176.2_Missense_Mutation_p.Q383L|ALPK1_ENST00000177648.9_Missense_Mutation_p.Q461L	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	461							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		ACCTATTCACAGCACCATACT	0.403000													11	64					0	0	0.069234	0	0
HLA-A	3105	broad.mit.edu	37	6	29910337	29910337	+	Missense_Mutation	SNP	G	G	A	rs41541013		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:29910337G>A	ENST00000396634.1	+	3	348	c.7G>A	c.(7-9)Gtc>Atc	p.V3I	HLA-A_ENST00000376809.5_Missense_Mutation_p.V3I|HLA-A_ENST00000376806.5_Missense_Mutation_p.V3I|HLA-A_ENST00000376802.2_Missense_Mutation_p.V3I			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	3					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GAGGATGGCCGTCATGGCGCC	0.677000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			7	44					0	0	0.038147	0	0
PC	5091	broad.mit.edu	37	11	66620061	66620061	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:66620061C>T	ENST00000393960.1	-	15	1955	c.1674G>A	c.(1672-1674)cgG>cgA	p.R558R	PC_ENST00000393955.2_Silent_p.R558R|PC_ENST00000393958.2_Silent_p.R558R	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	558					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CCGGGTGGTTCCGCACAGCTC	0.647000													3	22					0	0	0.004672	0	0
NUP214	8021	broad.mit.edu	37	9	134014772	134014772	+	Silent	SNP	A	A	T	rs144444662	byFrequency	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:134014772A>T	ENST00000359428.5	+	10	1254	c.1110A>T	c.(1108-1110)acA>acT	p.T370T	NUP214_ENST00000451030.1_Silent_p.T370T|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000411637.2_Silent_p.T370T|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	370					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAGACTATACAAACCAAGTGG	0.423000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								10	64					0	0	0.093190	0	0
ASTN2	23245	broad.mit.edu	37	9	119858368	119858368	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:119858368G>T	ENST00000313400.4	-	5	1331	c.1231C>A	c.(1231-1233)Ctg>Atg	p.L411M	ASTN2_ENST00000361209.2_Missense_Mutation_p.L360M|ASTN2_ENST00000361477.3_De_novo_Start_InFrame|ASTN2_ENST00000373996.3_Missense_Mutation_p.L411M			O75129	ASTN2_HUMAN	astrotactin 2	411						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TAGAATGTCAGCTGAGTTTCA	0.532000													19	24					1.33834e-09	1.64924e-09	0.043863	1	0
WDR64	128025	broad.mit.edu	37	1	241904851	241904851	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:241904851G>C	ENST00000366552.2	+	11	1532	c.1325G>C	c.(1324-1326)aGg>aCg	p.R442T	WDR64_ENST00000437684.2_Missense_Mutation_p.R442T	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	442										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CCTTTGACTAGGATGATACAA	0.348000													3	32					0	0	0.004672	0	0
EPHB3	2049	broad.mit.edu	37	3	184295457	184295457	+	Silent	SNP	C	C	T	rs56102565	byFrequency	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:184295457C>T	ENST00000330394.2	+	7	1943	c.1491C>T	c.(1489-1491)atC>atT	p.I497I	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	497	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCGAGGGCATCGCCTCCACAG	0.662000													4	25					0	0	0.014758	0	0
ADAM21	8747	broad.mit.edu	37	14	70926066	70926066	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:70926066A>T	ENST00000603540.1	+	2	2108	c.1850A>T	c.(1849-1851)aAg>aTg	p.K617M	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.K617M	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	617	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGCCCAGGAAAGATCTGCATC	0.438000													21	91					0	0	0.049695	0	0
IRS4	8471	broad.mit.edu	37	X	107977986	107977986	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:107977986C>G	ENST00000372129.2	-	1	1665	c.1589G>C	c.(1588-1590)cGa>cCa	p.R530P		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	530						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.R530Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGACCACCTCGGGATCCCTG	0.632000													27	34					0	0	0.108266	0	0
TBCA	6902	broad.mit.edu	37	5	77004067	77004067	+	Splice_Site	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:77004067C>A	ENST00000306388.6	-	2	188	c.159_splice	c.e2+1	p.Q53_splice	TBCA_ENST00000520039.1_Intron|TBCA_ENST00000518338.2_Splice_Site_p.Q53_splice|TBCA_ENST00000517679.1_Splice_Site_p.Q64_splice|TBCA_ENST00000380377.4_Splice_Site_p.Q53_splice|TBCA_ENST00000522370.1_Splice_Site_p.Q29_splice|TBCA_ENST00000520361.1_Splice_Site_p.Q53_splice			O75347	TBCA_HUMAN	tubulin folding cofactor A	53					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		ATAATTTTACCTGCTTTTTAA	0.274000													4	33					1.23904e-05	1.39028e-05	0.014758	1	0
EXTL1	2134	broad.mit.edu	37	1	26360187	26360187	+	Splice_Site	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:26360187G>A	ENST00000374280.3	+	9	2386	c.1518_splice	c.e9-1	p.V507_splice		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	507					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		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;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTCCCCAGGTGGACTTTGC	0.617000													16	41					0	0	0.049695	0	0
ASB2	51676	broad.mit.edu	37	14	94420759	94420759	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:94420759C>A	ENST00000555019.1	-	4	812	c.382G>T	c.(382-384)Ggg>Tgg	p.G128W	ASB2_ENST00000315988.4_Missense_Mutation_p.G80W|ASB2_ENST00000556337.1_Intron	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	80					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		AGATTCTTCCCTTCCTTGATC	0.587000													5	14					3.59834e-05	3.99515e-05	0.021553	1	0
TTN	7273	broad.mit.edu	37	2	179438786	179438786	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:179438786C>A	ENST00000589042.1	-	326	72297	c.72073G>T	c.(72073-72075)Gag>Tag	p.E24025*	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E21457*|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E15152*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E14960*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E22384*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E15085*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22384	Fibronectin type-III 74.						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)			TTTGGTGCCTCAACATCATCC	0.463000													12	80					5.50884e-06	6.26197e-06	0.093190	1	0
SKIDA1	387640	broad.mit.edu	37	10	21806653	21806653	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:21806653G>T	ENST00000449193.2	-	4	2351	c.99C>A	c.(97-99)ttC>ttA	p.F33L	SKIDA1_ENST00000444772.3_Missense_Mutation_p.F33L	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1																		GCAGATCTGTGAAGACTTGGG	0.512000													15	58					1.3612e-06	1.58879e-06	0.024245	1	0
TIPARP	25976	broad.mit.edu	37	3	156413761	156413761	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:156413761G>C	ENST00000461166.1	+	4	1782	c.1194G>C	c.(1192-1194)gaG>gaC	p.E398D	TIPARP_ENST00000295924.7_Missense_Mutation_p.E398D|TIPARP_ENST00000542783.1_Missense_Mutation_p.E398D|TIPARP_ENST00000486483.1_Missense_Mutation_p.E398D	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	398	WWE.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCAGGAGAGAGATAAAAAGGA	0.388000													8	77					0	0	0.058154	0	0
TTI1	9675	broad.mit.edu	37	20	36631042	36631042	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:36631042T>G	ENST00000373448.2	-	5	2878	c.2640A>C	c.(2638-2640)caA>caC	p.Q880H	TTI1_ENST00000449821.1_Missense_Mutation_p.Q880H|TTI1_ENST00000373447.3_Missense_Mutation_p.Q880H	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	880							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TCAGGCGGATTTGCAGATTTT	0.537000													4	75					0	0	0.014758	0	0
DNAH3	55567	broad.mit.edu	37	16	21063028	21063028	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:21063028G>T	ENST00000261383.3	-	29	4200	c.4201C>A	c.(4201-4203)Cgg>Agg	p.R1401R	DNAH3_ENST00000415178.1_Silent_p.R1401R	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1401	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCACCAGCCGGGGGGAGTTT	0.567000													45	90					5.7616e-29	7.92488e-29	0.048971	1	0
GABRB1	2560	broad.mit.edu	37	4	47405466	47405466	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:47405466A>T	ENST00000295454.3	+	6	968	c.676A>T	c.(676-678)Aca>Tca	p.T226S	GABRB1_ENST00000538619.1_Missense_Mutation_p.T156S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	226					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGTGGAGTTCACAACAGGTGA	0.418000													15	18					0	0	0.028581	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65714762	65714762	+	RNA	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:65714762G>C	ENST00000532620.1	+	0	697							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						CAACCTCCCAGAGGCCCATGG	0.652000													7	21					0	0	0.058154	0	0
ZNF239	8187	broad.mit.edu	37	10	44053086	44053086	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:44053086C>A	ENST00000306006.6	-	2	1094	c.442G>T	c.(442-444)Gat>Tat	p.D148Y	ZNF239_ENST00000426961.1_Missense_Mutation_p.D148Y|ZNF239_ENST00000535642.1_Missense_Mutation_p.D148Y|ZNF239_ENST00000374446.2_Missense_Mutation_p.D148Y|ZNF239_ENST00000491188.1_5'UTR	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCAATGGGATCCAAAGATTCT	0.453000													22	51					1.36565e-18	1.80945e-18	0.076483	1	0
AKAP4	8852	broad.mit.edu	37	X	49957746	49957746	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:49957746G>T	ENST00000376056.2	-	5	1741	c.1591C>A	c.(1591-1593)Ctg>Atg	p.L531M	AKAP4_ENST00000358526.2_Missense_Mutation_p.L540M|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Missense_Mutation_p.L531M			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	540					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TCCTTGGCCAGTGAATCTGTG	0.463000													13	70					3.45872e-05	3.85459e-05	0.028581	1	0
ABLIM3	22885	broad.mit.edu	37	5	148630009	148630009	+	Splice_Site	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:148630009G>T	ENST00000506113.1	+	19	2211		c.e19-1		ABLIM3_ENST00000504238.1_Splice_Site|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Splice_Site|ABLIM3_ENST00000517451.1_Splice_Site|ABLIM3_ENST00000326685.7_Splice_Site|ABLIM3_ENST00000356541.3_Splice_Site|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000508983.1_Splice_Site			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3						axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTTTTCAGATCCTCTCAT	0.547000													5	38					3.59834e-05	3.99515e-05	0.021553	1	0
ZFAND3	60685	broad.mit.edu	37	6	38084406	38084406	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:38084406G>A	ENST00000287218.4	+	5	867	c.420G>A	c.(418-420)acG>acA	p.T140T	ZFAND3_ENST00000373391.2_Silent_p.T118T	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	140							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						TTGAGAATACGGAACGGTCCG	0.498000													13	153					0	0	0.024245	0	0
AGFG1	3267	broad.mit.edu	37	2	228384753	228384753	+	Silent	SNP	A	A	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:228384753A>G	ENST00000310078.7	+	3	611	c.351A>G	c.(349-351)ctA>ctG	p.L117L	AGFG1_ENST00000373671.3_Silent_p.L117L|AGFG1_ENST00000409171.1_Silent_p.L117L|AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409315.1_Silent_p.L117L|AGFG1_ENST00000409979.2_Silent_p.L117L	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	117	Arf-GAP.				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						AAGAGTTTCTACAAGAAAAGT	0.358000													6	30					0	0	0.029380	0	0
PTPRT	11122	broad.mit.edu	37	20	40877404	40877404	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:40877404C>T	ENST00000373198.3	-	15	2527	c.2292G>A	c.(2290-2292)gtG>gtA	p.V764V	PTPRT_ENST00000356100.2_Silent_p.V764V|PTPRT_ENST00000373184.1_Silent_p.V745V|PTPRT_ENST00000373201.1_Silent_p.V745V|PTPRT_ENST00000373190.1_Silent_p.V745V|PTPRT_ENST00000373187.1_Silent_p.V745V|PTPRT_ENST00000373193.3_Silent_p.V745V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	745					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGCCATCTTCACGGTGTTGT	0.537000													12	96					0	0	0.093190	0	0
SMARCC2	6601	broad.mit.edu	37	12	56563579	56563579	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:56563579C>G	ENST00000394023.3	-	24	2634	c.2529G>C	c.(2527-2529)aaG>aaC	p.K843N	SMARCC2_ENST00000550164.1_Missense_Mutation_p.K843N|SMARCC2_ENST00000347471.4_Missense_Mutation_p.K843N|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.K812N	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	812	Glu-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTCCATCACTCTTCTCGGACT	0.557000													21	224					0	0	0.069288	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147182	52147182	+	Silent	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:52147182G>T	ENST00000360844.6	-	5	903	c.862C>A	c.(862-864)Cgg>Agg	p.R288R	SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000534261.2_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	288	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TTTCCCTCCCGGAACCAGCTC	0.602000													7	26					0.000157383	0.000172667	0.038147	1	0
DNAH8	1769	broad.mit.edu	37	6	38746218	38746218	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:38746218C>A	ENST00000359357.3	+	12	1620	c.1366C>A	c.(1366-1368)Cag>Aag	p.Q456K	DNAH8_ENST00000441566.1_Missense_Mutation_p.Q456K|DNAH8_ENST00000449981.2_Missense_Mutation_p.Q673K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATCTTCTCAGCAGGCTCTTCA	0.294000													21	97					8.58068e-18	1.13085e-17	0.034045	1	0
ALX4	60529	broad.mit.edu	37	11	44296906	44296906	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:44296906G>T	ENST00000329255.3	-	2	872	c.769C>A	c.(769-771)Cgc>Agc	p.R257S		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	257			R -> T (in dbSNP:rs3824915).		hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						ACCTGCACGCGGGCCTCAGTG	0.622000													16	63					9.16793e-09	1.11309e-08	0.033300	1	0
VDAC3	7419	broad.mit.edu	37	8	42252647	42252647	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:42252647G>C	ENST00000392935.3	+	4	256	c.113G>C	c.(112-114)gGa>gCa	p.G38A	VDAC3_ENST00000522572.1_Missense_Mutation_p.G38A|VDAC3_ENST00000022615.4_Missense_Mutation_p.G38A|VDAC3_ENST00000521158.1_Missense_Mutation_p.G38A	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	38					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	TCTTGTAGTGGAGTGGTGAGT	0.343000													6	26					0	0	0.038147	0	0
HDHD3	81932	broad.mit.edu	37	9	116136292	116136292	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:116136292C>G	ENST00000238379.5	-	2	1240	c.343G>C	c.(343-345)Gat>Cat	p.D115H	HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Missense_Mutation_p.D115H	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	115							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						TCAGCCCCATCCAACACCTGC	0.617000													15	106					0	0	0.024245	0	0
ZNF70	7621	broad.mit.edu	37	22	24087219	24087219	+	Nonsense_Mutation	SNP	G	G	A	rs145985311		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:24087219G>A	ENST00000341976.3	-	2	569	c.109C>T	c.(109-111)Cag>Tag	p.Q37*		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	37						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CCTCTTTCCTGAAGAAAAGGG	0.483000													15	146					0	0	0.020292	0	0
DCC	1630	broad.mit.edu	37	18	50683755	50683755	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr18:50683755G>T	ENST00000442544.2	+	8	1907	c.1291G>T	c.(1291-1293)Gct>Tct	p.A431S	DCC_ENST00000412726.1_Missense_Mutation_p.A279S|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.A86S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	431	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCTCCCTTCGGCTCCCAGAGA	0.542000													65	77					9.40535e-28	1.28531e-27	0.048971	1	0
TNRC6B	23112	broad.mit.edu	37	22	40521834	40521834	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:40521834G>A	ENST00000301923.9	+	3	315	c.13G>A	c.(13-15)Gag>Aag	p.E5K	TNRC6B_ENST00000402203.1_Missense_Mutation_p.E5K	NM_001024843.1	NP_001020014.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	0					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GCAAACCAATGAGGGAGAAGT	0.388000													4	71					0	0	0.014758	0	0
SLIT3	6586	broad.mit.edu	37	5	168093540	168093540	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:168093540G>T	ENST00000519560.1	-	36	4910	c.4491C>A	c.(4489-4491)taC>taA	p.Y1497*	SLIT3_ENST00000332966.8_Nonsense_Mutation_p.Y1504*|CTC-558O2.2_ENST00000520041.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1497	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.Y1497Y(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTGGAAGACGTATTTCCGCC	0.627000													6	10					0.0215528	0.0222597	0.021553	1	0
OR51B2	79345	broad.mit.edu	37	11	5344955	5344955	+	Silent	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:5344955A>T	ENST00000328813.2	-	1	627	c.573T>A	c.(571-573)acT>acA	p.T191T	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCTATTGAAAGTTATGTCAG	0.353000													4	40					0	0	0.014758	0	0
TSC22D1	8848	broad.mit.edu	37	13	45149030	45149030	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:45149030G>C	ENST00000458659.2	-	1	1671	c.1181C>G	c.(1180-1182)tCa>tGa	p.S394*	TSC22D1_ENST00000501704.2_Nonsense_Mutation_p.S394*	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	394					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CTGCTGACTTGAAACCGATCC	0.453000													5	28					0	0	0.021553	0	0
TPH2	121278	broad.mit.edu	37	12	72425109	72425109	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:72425109C>G	ENST00000333850.3	+	10	1377	c.1236C>G	c.(1234-1236)atC>atG	p.I412M		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	412					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AATGCCTTATCACCACCTTCC	0.393000													6	40					0	0	0.029380	0	0
USP25	29761	broad.mit.edu	37	21	17214816	17214816	+	Nonsense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr21:17214816C>G	ENST00000285681.2	+	18	2663	c.2294C>G	c.(2293-2295)tCa>tGa	p.S765*	USP25_ENST00000400183.2_Nonsense_Mutation_p.S765*|USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Nonsense_Mutation_p.S765*			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	765					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		ACCAAGGCATCACATGAGCAT	0.413000													7	71					0	0	0.038147	0	0
MYO10	4651	broad.mit.edu	37	5	16711277	16711277	+	Silent	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:16711277G>C	ENST00000513610.1	-	20	2461	c.2007C>G	c.(2005-2007)cgC>cgG	p.R669R	MYO10_ENST00000512061.1_5'UTR|MYO10_ENST00000515803.1_Silent_p.R8R|MYO10_ENST00000505695.1_Silent_p.R8R|MYO10_ENST00000427430.2_Silent_p.R26R|MYO10_ENST00000274203.9_Silent_p.R26R	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	669	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ACCCAGCTTTGCGGATTCTCA	0.478000													3	31					0	0	0.004672	0	0
MYO5A	4644	broad.mit.edu	37	15	52720630	52720630	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:52720630C>A	ENST00000399231.3	-	3	518	c.275G>T	c.(274-276)cGc>cTc	p.R92L	MYO5A_ENST00000358212.6_Missense_Mutation_p.R92L|MYO5A_ENST00000553916.1_Missense_Mutation_p.R92L|MYO5A_ENST00000356338.6_Missense_Mutation_p.R92L|MYO5A_ENST00000399233.2_Missense_Mutation_p.R92L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	92	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ATCAATAAAGCGGACTCTGAG	0.418000													7	112					2.0095e-06	2.32894e-06	0.029380	1	0
WASF1	8936	broad.mit.edu	37	6	110428333	110428333	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:110428333C>G	ENST00000392589.1	-	7	1323	c.487G>C	c.(487-489)Gaa>Caa	p.E163Q	WASF1_ENST00000359451.2_Missense_Mutation_p.E163Q|WASF1_ENST00000392587.2_Missense_Mutation_p.E163Q|WASF1_ENST00000392586.1_Missense_Mutation_p.E163Q|WASF1_ENST00000392588.1_Missense_Mutation_p.E163Q	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	163					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		AACATTTTTTCTTTCCATAGA	0.294000													8	68					0	0	0.038147	0	0
TAP2	6891	broad.mit.edu	37	6	32800459	32800459	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:32800459C>A	ENST00000374897.2	-	6	1219	c.1088G>T	c.(1087-1089)cGg>cTg	p.R363L	TAP2_ENST00000452392.2_Missense_Mutation_p.R363L|TAP2_ENST00000485701.1_5'UTR|TAP2_ENST00000374899.4_Missense_Mutation_p.R363L	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	363	ABC transmembrane type-1.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										ATACAGCTGCCGACATTGTTC	0.577000													12	83					3.52763e-06	4.05035e-06	0.033300	1	0
CCDC97	90324	broad.mit.edu	37	19	41828558	41828558	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:41828558G>T	ENST00000269967.3	+	5	1092	c.970G>T	c.(970-972)Gag>Tag	p.E324*		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	324										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GGATGAGGAGGAGAGGTACTT	0.622000													26	378					9.17885e-22	1.23161e-21	0.059317	1	0
RHPN2	85415	broad.mit.edu	37	19	33502653	33502653	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:33502653G>T	ENST00000254260.3	-	6	560	c.525C>A	c.(523-525)ttC>ttA	p.F175L	RHPN2_ENST00000400226.4_Missense_Mutation_p.F24L	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	175	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CCAGCTGGATGAAGTATGTCA	0.592000													4	60					0.014758	0.0153276	0.014758	1	0
HGF	3082	broad.mit.edu	37	7	81355253	81355253	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:81355253A>T	ENST00000222390.5	-	9	1347	c.1121T>A	c.(1120-1122)gTt>gAt	p.V374D	HGF_ENST00000457544.2_Missense_Mutation_p.V369D	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	374	Kringle 3.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GCAGTAGCCAACTCGGATGTT	0.443000													5	68					0	0	0.014758	0	0
OR8D4	338662	broad.mit.edu	37	11	123777582	123777582	+	Silent	SNP	C	C	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:123777582C>A	ENST00000321355.2	+	1	474	c.444C>A	c.(442-444)gtC>gtA	p.V148V		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGGCTGCTGTCTTCTCAGTAG	0.498000													13	75					2.94398e-08	3.55681e-08	0.043863	1	0
EGF	1950	broad.mit.edu	37	4	110920855	110920855	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:110920855G>T	ENST00000265171.5	+	21	3471	c.3026G>T	c.(3025-3027)gGg>gTg	p.G1009V	EGF_ENST00000509793.1_Missense_Mutation_p.G967V|EGF_ENST00000503392.1_Missense_Mutation_p.G968V	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1009	EGF-like 9.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GGCTACATCGGGGAGCGATGT	0.552000													41	59					4.01765e-15	5.23888e-15	0.111260	1	0
MTBP	27085	broad.mit.edu	37	8	121463434	121463434	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:121463434G>C	ENST00000305949.1	+	4	342	c.297G>C	c.(295-297)gaG>gaC	p.E99D		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	99					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ATTGGCAAGAGATACATTTTG	0.279000													12	57					0	0	0.093190	0	0
IFIT5	24138	broad.mit.edu	37	10	91177635	91177635	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:91177635G>C	ENST00000371795.4	+	2	892	c.679G>C	c.(679-681)Gat>Cat	p.D227H	IFIT5_ENST00000416601.1_Missense_Mutation_p.D179H	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	227							binding			endometrium(1)|large_intestine(4)|lung(4)	9						GAAGCTTCAAGATGTACATGC	0.433000													9	75					0	0	0.047766	0	0
TDRD6	221400	broad.mit.edu	37	6	46659518	46659518	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:46659518A>T	ENST00000544460.1	+	1	3907	c.3653A>T	c.(3652-3654)aAc>aTc	p.N1218I	TDRD6_ENST00000316081.6_Missense_Mutation_p.N1218I	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1218					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CCTCAGATCAACTCATCATAC	0.308000													30	37					0	0	0.045705	0	0
FTSJ1	24140	broad.mit.edu	37	X	48340055	48340055	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:48340055G>T	ENST00000019019.2	+	10	1036	c.607G>T	c.(607-609)Gag>Tag	p.E203*	FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000396894.4_Nonsense_Mutation_p.E66*|FTSJ1_ENST00000348411.2_Nonsense_Mutation_p.E203*|FTSJ1_ENST00000456787.1_Nonsense_Mutation_p.E203*	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	203					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						TGACCCTCCCGAGGGCTTCAT	0.627000													5	8					1.024e-07	1.22516e-07	0.014758	1	0
NFE2L2	4780	broad.mit.edu	37	2	178098966	178098966	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:178098966C>G	ENST00000397062.3	-	2	633	c.79G>C	c.(79-81)Gat>Cat	p.D27H	NFE2L2_ENST00000464747.1_Missense_Mutation_p.D11H|NFE2L2_ENST00000423513.1_Missense_Mutation_p.D11H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D11H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D11H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	27					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D27Y(1)|p.D27H(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AGATCTATATCTTGCCTCCAA	0.353000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			7	37					0	0	0.029380	0	0
SCN7A	6332	broad.mit.edu	37	2	167273453	167273453	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:167273453T>A	ENST00000409855.1	-	20	3304	c.3178A>T	c.(3178-3180)Aat>Tat	p.N1060Y		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1060					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGAAACACATTCAAAGTGGGT	0.358000													6	38					0	0	0.021553	0	0
CDK19	23097	broad.mit.edu	37	6	110988772	110988772	+	Silent	SNP	A	A	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:110988772A>G	ENST00000368911.3	-	4	500	c.321T>C	c.(319-321)atT>atC	p.I107I	CDK19_ENST00000323817.3_Silent_p.I47I	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	107	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GAAACTTAATAATATGCtaaa	0.284000													3	24					0	0	0.004672	0	0
SHANK2	22941	broad.mit.edu	37	11	70319093	70319093	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:70319093C>T	ENST00000338508.4	-	33	5433	c.5434G>A	c.(5434-5436)Gag>Aag	p.E1812K	SHANK2_ENST00000409161.1_Missense_Mutation_p.E1215K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E1216K|SHANK2_ENST00000423696.2_Missense_Mutation_p.E1432K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1432					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCATCGATCTCATTGTCCATG	0.468000													7	55					0	0	0.038147	0	0
FBLN7	129804	broad.mit.edu	37	2	112942902	112942902	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:112942902G>A	ENST00000331203.2	+	7	1204	c.933G>A	c.(931-933)gtG>gtA	p.V311V	FBLN7_ENST00000409903.1_Silent_p.V311V|FBLN7_ENST00000409450.3_Silent_p.V265V|FBLN7_ENST00000409667.3_Silent_p.V177V	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	311	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TGAGCTACGTGAAGACGTCTC	0.612000													4	63					0	0	0.014758	0	0
GNGT2	2793	broad.mit.edu	37	17	47284225	47284225	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:47284225T>G	ENST00000511277.1	-	4	283	c.104A>C	c.(103-105)gAa>gCa	p.E35A	GNGT2_ENST00000503070.1_Missense_Mutation_p.E35A|GNGT2_ENST00000515635.1_Missense_Mutation_p.E35A|GNGT2_ENST00000511673.1_Missense_Mutation_p.E35A|GNGT2_ENST00000300406.2_Missense_Mutation_p.E35A|GNGT2_ENST00000507680.1_Missense_Mutation_p.E35A	NM_001198756.1	NP_001185685.1	O14610	GBGT2_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2	35					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CTCCTTGATTTCCTTTCCCGC	0.463000													16	203					0	0	0.038395	0	0
RIMS1	22999	broad.mit.edu	37	6	73110206	73110206	+	Silent	SNP	C	C	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:73110206C>T	ENST00000264839.7	+	30	4416	c.4416C>T	c.(4414-4416)gtC>gtT	p.V1472V	RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000401910.3_Silent_p.V943V|RIMS1_ENST00000518273.1_Silent_p.V1302V|RIMS1_ENST00000517827.1_Silent_p.V757V|RIMS1_ENST00000517960.1_Silent_p.V1406V|RIMS1_ENST00000523963.1_Silent_p.V748V|RIMS1_ENST00000520567.1_Silent_p.V1273V|RIMS1_ENST00000425662.2_Silent_p.V691V|RIMS1_ENST00000522291.1_Silent_p.V1222V|RIMS1_ENST00000491071.2_Silent_p.V1412V|RIMS1_ENST00000348717.5_Silent_p.V1406V|RIMS1_ENST00000414192.2_Silent_p.V150V|RIMS1_ENST00000521978.1_Silent_p.V1623V|RIMS1_ENST00000538414.1_Silent_p.V429V			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1623					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGGTGATTGTCTGGGGAGACT	0.478000													32	97					0	0	0.059317	0	0
DCC	1630	broad.mit.edu	37	18	51013320	51013320	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr18:51013320G>A	ENST00000442544.2	+	26	4506	c.3890G>A	c.(3889-3891)aGa>aAa	p.R1297K	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.R932K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1297					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGAGCAGGAAGAAGTCAGTGT	0.463000													9	62					0	0	0.047766	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121674344	121674344	+	Silent	SNP	G	G	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:121674344G>A	ENST00000393386.2	+	17	5607	c.5196G>A	c.(5194-5196)caG>caA	p.Q1732Q	PTPRZ1_ENST00000449182.1_Silent_p.Q865Q	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1732	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGGAAGTGCAGAGCTGTACTG	0.333000													11	35					0	0	0.093190	0	0
RP5-1180C18.1	0	broad.mit.edu	37	1	37765821	37765822	+	RNA	DEL	TC	TC	-	rs72210580		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:37765821_37765822delTC	ENST00000413901.1	-	0	111																											ACCAATTCCAtctctctctctc	0.500													5	2	---	---	---	---					
RP11-466L17.1	0	broad.mit.edu	37	1	56124630	56124631	+	RNA	DEL	GA	GA	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:56124630_56124631delGA	ENST00000422374.1	+	0	240																											AAAACAACTGGAGAGAGAGAGG	0.342													4	3	---	---	---	---					
GNG12-AS1	100289178	broad.mit.edu	37	1	68326363	68326364	+	RNA	INS	-	-	G	rs116044984	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:68326363_68326364insG	ENST00000420587.1	+	0	134				GNG12-AS1_ENST00000413628.1_RNA	NR_040077.1		Q6ZVV5	Q6ZVV5_HUMAN																			ACTAGTGATGAGGGGGCTGCAC	0.381													2	4	---	---	---	---					
LOC101927587	101927587	broad.mit.edu	37	1	84076642	84076642	+	RNA	DEL	A	A	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:84076642delA	ENST00000417975.1	-	0	280																											aCAAGCAATTAAAAAGAGTAA	0.423													2	4	---	---	---	---					
LOC100129620	100129620	broad.mit.edu	37	1	99562318	99562321	+	RNA	DEL	TTTT	TTTT	-	rs150632426		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:99562318_99562321delTTTT	ENST00000425113.1	+	0	370					NR_033940.1																						gccttctttgtttttttttttttt	0.333													2	4	---	---	---	---					
AL592494.5	0	broad.mit.edu	37	1	121142796	121142797	+	RNA	INS	-	-	A	rs146335955		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:121142796_121142797insA	ENST00000417218.1	+	0	551																											gaaatgagatgaatgatgagat	0.307													3	3	---	---	---	---					
NOTCH2NL	388677	broad.mit.edu	37	1	145281451	145281451	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:145281451delC	ENST00000369340.3	+	5	825	c.381delC	c.(379-381)ttfs	p.F127fs	NOTCH2NL_ENST00000362074.6_Frame_Shift_Del_p.F127fs|NOTCH2NL_ENST00000344859.3_Frame_Shift_Del_p.F127fs|RP11-458D21.5_ENST00000468030.1_Frame_Shift_Del_p.F127fs			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	127	EGF-like 4.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	p.F127F(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CCAACCAGTTCTCCTGCAAAT	0.522													31	540	---	---	---	---					
LOC645166	645166	broad.mit.edu	37	1	148948880	148948881	+	RNA	INS	-	-	A	rs140431291		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:148948880_148948881insA	ENST00000539543.1	+	0	254					NR_027355.1																						caagactatctaaaaaaaaaaa	0.376													6	12	---	---	---	---					
RP1-15D23.2	0	broad.mit.edu	37	1	172765166	172765166	+	RNA	DEL	C	C	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:172765166delC	ENST00000432694.1	+	0	223																											gttgtaatggcctttgtgcaa	0.418													4	2	---	---	---	---					
RP1-35C21.2	0	broad.mit.edu	37	1	177529182	177529183	+	RNA	DEL	GG	GG	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:177529182_177529183delGG	ENST00000438575.1	-	0	296																											GAAAGAAAAAGGGAGAAAGGGT	0.381													11	18	---	---	---	---					
LOC101928778	101928778	broad.mit.edu	37	1	177674662	177674662	+	RNA	DEL	T	T	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:177674662delT	ENST00000427173.1	+	0	955																											GGGCTCTGACTTTTTTTTAAA	0.303													2	4	---	---	---	---					
RP11-21J7.1	0	broad.mit.edu	37	1	193650707	193650708	+	RNA	INS	-	-	GT	rs72384252	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:193650707_193650708insGT	ENST00000448412.1	+	0	112																											GAAGTAAGGGGgtgtgtgtgtg	0.351													2	4	---	---	---	---					
GALNT2	2590	broad.mit.edu	37	1	230391037	230391037	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:230391037delC	ENST00000366672.4	+	11	1155	c.1083delC	c.(1081-1083)ttfs	p.F361fs	GALNT2_ENST00000543760.1_Frame_Shift_Del_p.F323fs|GALNT2_ENST00000541865.1_Frame_Shift_Del_p.P237fs	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	361	Catalytic subdomain B.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GACACGTGTTCCGGAAGCAGC	0.582													16	123	---	---	---	---					
RP4-781K5.6	0	broad.mit.edu	37	1	234819505	234819505	+	RNA	DEL	C	C	-	rs150764725		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:234819505delC	ENST00000442382.1	-	0	96																											GTCCCCTACTCCCCCCCCCAT	0.433													4	8	---	---	---	---					
RP11-634B7.4	0	broad.mit.edu	37	1	247844823	247844825	+	RNA	DEL	GAG	GAG	-	rs112165742		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr1:247844823_247844825delGAG	ENST00000449298.1	+	0	681																											tgtaagactagaggagaaaaaac	0.443													5	1	---	---	---	---					
AC018685.1	0	broad.mit.edu	37	2	2647948	2647950	+	RNA	DEL	ACA	ACA	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:2647948_2647950delACA	ENST00000414065.1	-	0	135																											acacaaccacacaacaacaacac	0.488													5	10	---	---	---	---					
LINC00487	400941	broad.mit.edu	37	2	6910015	6910015	+	RNA	DEL	G	G	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:6910015delG	ENST00000382045.3	-	0	233					NR_038369.1																						ctgtgtgtgtggtgtgcatgt	0.433													7	10	---	---	---	---					
ADAM17	6868	broad.mit.edu	37	2	9661433	9661436	+	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:9661433_9661436delTGAG	ENST00000310823.3	-	8	1035_1038	c.853_856delCTCA	c.(853-858)agfs	p.LK285fs		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	285	Peptidase M12B.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	p.L285L(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TGTGGAGACTTGAGAATGCGAATC	0.353													18	68	---	---	---	---					
AC092635.1	0	broad.mit.edu	37	2	13724556	13724557	+	RNA	INS	-	-	A	rs145256131		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:13724556_13724557insA	ENST00000434509.1	+	0	342																											AGAAACCAACCAAAAAAAAAAA	0.312													4	2	---	---	---	---					
AC010145.4	0	broad.mit.edu	37	2	16146078	16146078	+	RNA	DEL	A	A	-	rs66467039		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:16146078delA	ENST00000422415.2	-	0	152																											gactctgtctaaaaaaaaaat	0.438													3	5	---	---	---	---					
AC068490.2	0	broad.mit.edu	37	2	22295250	22295250	+	RNA	DEL	A	A	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:22295250delA	ENST00000450551.1	-	0	200																											agacacatttaaaaaaaagaa	0.269													2	4	---	---	---	---					
LINC00486	285045	broad.mit.edu	37	2	33090589	33090590	+	RNA	INS	-	-	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:33090589_33090590insG	ENST00000414054.1	+	0	289					NR_027098.1																						GACATTACCCTGGGGGGACTTA	0.535													2	4	---	---	---	---					
LINC01317	104355287	broad.mit.edu	37	2	34249057	34249057	+	RNA	DEL	T	T	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:34249057delT	ENST00000366209.2	+	0	389																											TACCATTTCCTTTTTTTCTCT	0.378													3	3	---	---	---	---					
AC073218.1	0	broad.mit.edu	37	2	34726791	34726792	+	RNA	INS	-	-	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:34726791_34726792insG	ENST00000422558.1	+	0	475																											TTACTTGGTATGGGGGTTGTCA	0.376													2	4	---	---	---	---					
SLC8A1-AS1	100128590	broad.mit.edu	37	2	40127068	40127068	+	RNA	DEL	A	A	-	rs34756736		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:40127068delA	ENST00000599740.1	+	0	73																											AGCAGCCTTTAAAAAAAAAAC	0.428													2	4	---	---	---	---					
LOC730100	730100	broad.mit.edu	37	2	52440668	52440669	+	RNA	INS	-	-	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:52440668_52440669insT	ENST00000440698.1	+	0	879																											AGGCTCAAAGATTTTTTATAGA	0.332													2	4	---	---	---	---					
LOC101927701	101927701	broad.mit.edu	37	2	68030135	68030135	+	RNA	DEL	T	T	-	rs74263917		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:68030135delT	ENST00000457448.1	-	0	180																											AGCATCTTTGTTTTTTTTCAT	0.438													3	3	---	---	---	---					
LOC102724691	102724691	broad.mit.edu	37	2	105604469	105604470	+	RNA	INS	-	-	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:105604469_105604470insG	ENST00000456519.1	-	0	43																											gggagtgggatggggggaaagg	0.470													2	4	---	---	---	---					
AC006227.1	0	broad.mit.edu	37	2	107874066	107874071	+	RNA	DEL	CAACAG	CAACAG	-	rs76529190		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:107874066_107874071delCAACAG	ENST00000443123.1	-	0	669																											AAACCAAAGCCAACAGCAACAGCATG	0.515													4	5	---	---	---	---					
AC012487.2	0	broad.mit.edu	37	2	109143438	109143438	+	RNA	DEL	A	A	-	rs150538987		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:109143438delA	ENST00000440975.1	-	0	250				AC012487.2_ENST00000322353.3_RNA																							ttcgtacagcaaaaaaaaaaa	0.473													2	4	---	---	---	---					
LINC00152	112597	broad.mit.edu	37	2	111961475	111961478	+	RNA	DEL	TTTG	TTTG	-	rs79556017		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:111961475_111961478delTTTG	ENST00000451230.1	+	0	122																											GCAGCtgttttttgtttgtttgtt	0.392													4	5	---	---	---	---					
AC017074.2	0	broad.mit.edu	37	2	114451435	114451437	+	RNA	DEL	TTT	TTT	-	rs35890404		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:114451435_114451437delTTT	ENST00000424612.1	-	0	382																											tcttttcttcttttttttttttt	0.478													2	4	---	---	---	---					
NIFK-AS1	254128	broad.mit.edu	37	2	122458940	122458941	+	RNA	INS	-	-	AAAC	rs3979426	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:122458940_122458941insAAAC	ENST00000419902.1	+	0	497					NR_037857.1																						actctgtctcaaaacaaacaaa	0.436													4	8	---	---	---	---					
TEX41	401014	broad.mit.edu	37	2	145473967	145473970	+	RNA	DEL	TATG	TATG	-	rs10579766		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:145473967_145473970delTATG	ENST00000445791.1	+	0	124					NR_033870.2																						tgtatgtatatatgtatgtatgta	0.314													2	4	---	---	---	---					
AC092684.1	0	broad.mit.edu	37	2	164620836	164620837	+	RNA	INS	-	-	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:164620836_164620837insG	ENST00000429636.1	-	0	379																											CAACAGTTGGAGGGGGTCATCA	0.411													2	4	---	---	---	---					
AC074363.1	0	broad.mit.edu	37	2	168303357	168303359	+	RNA	DEL	CTT	CTT	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:168303357_168303359delCTT	ENST00000442316.1	+	0	164																											catctgaagccttcttctctcaa	0.429													3	3	---	---	---	---					
AC016723.4	0	broad.mit.edu	37	2	168791919	168791920	+	RNA	DEL	AG	AG	-	rs147754662		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:168791919_168791920delAG	ENST00000436982.2	-	0	36																											aaggaaagaaagagagagagag	0.450													3	3	---	---	---	---					
AC079305.11	0	broad.mit.edu	37	2	177881641	177881641	+	RNA	DEL	T	T	-	rs151243208		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:177881641delT	ENST00000441205.1	-	0	370																											ctcttcttgcttttttttttt	0.438													3	4	---	---	---	---					
AC007319.1	0	broad.mit.edu	37	2	188001664	188001664	+	RNA	DEL	A	A	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:188001664delA	ENST00000412276.1	+	0	92				AC007319.1_ENST00000453517.1_RNA																							CCTAGCTGGGAAAAGGCGGGA	0.433													2	4	---	---	---	---					
LOC101927687	101927687	broad.mit.edu	37	2	200772968	200772968	+	RNA	DEL	T	T	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:200772968delT	ENST00000594069.1	-	0	786																											GTCTTGTCTATTTTTTTCCCC	0.512													2	4	---	---	---	---					
LOC101927865	101927865	broad.mit.edu	37	2	208069983	208069983	+	RNA	DEL	G	G	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr2:208069983delG	ENST00000435643.1	+	0	285																											CTGAGCTCATGGACCTGTAAT	0.308													2	4	---	---	---	---					
AC026167.1	0	broad.mit.edu	37	3	6230664	6230665	+	RNA	DEL	TC	TC	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:6230664_6230665delTC	ENST00000435651.1	+	0	95																											tctatctctgtctctctctctc	0.465													2	4	---	---	---	---					
LMCD1-AS1	100288428	broad.mit.edu	37	3	8217114	8217114	+	RNA	DEL	G	G	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:8217114delG	ENST00000446281.1	-	0	514																											AAGTTCATTTGGCCAACCACA	0.483													4	2	---	---	---	---					
SATB1-AS1	101927777	broad.mit.edu	37	3	18944747	18944748	+	RNA	INS	-	-	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:18944747_18944748insG	ENST00000425799.2	+	0	463																											AGTAATAGAGAGGGGGGGAATT	0.322													3	3	---	---	---	---					
RP11-231I13.2	0	broad.mit.edu	37	3	70314841	70314855	+	RNA	DEL	AAAGAACTGCCTGAG	AAAGAACTGCCTGAG	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:70314841_70314855delAAAGAACTGCCTGAG	ENST00000567252.1	-	0	264																											acactgctgtaaagaactgcctgagaatgggcaat	0.409													3	5	---	---	---	---					
IMPG2	50939	broad.mit.edu	37	3	100949985	100949985	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:100949985delG	ENST00000193391.7	-	16	3425	c.3238delC	c.(3238-3240)ggfs	p.R1080fs		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1080	EGF-like 2.|Hyaluronan-binding motif involved in chondroitin sulfate C-binding (By similarity).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCACCCACCCGGCACCTGCAA	0.507													15	188	---	---	---	---					
LINC00882	100302640	broad.mit.edu	37	3	106853918	106853919	+	RNA	INS	-	-	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:106853918_106853919insA	ENST00000484698.1	-	0	190																											ccccatctctgaaaaaaaaaac	0.366													2	4	---	---	---	---					
RP11-457K10.1	0	broad.mit.edu	37	3	109520606	109520607	+	RNA	DEL	TG	TG	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:109520606_109520607delTG	ENST00000485384.1	+	0	29																											tgtgtgtgtttgtgtgtgtgtg	0.391													3	4	---	---	---	---					
PVRL3-AS1	100506555	broad.mit.edu	37	3	110781932	110781933	+	RNA	INS	-	-	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:110781932_110781933insT	ENST00000491709.1	-	0	270				PVRL3-AS1_ENST00000463025.1_RNA|PVRL3-AS1_ENST00000476301.1_RNA|PVRL3-AS1_ENST00000474769.1_RNA|PVRL3-AS1_ENST00000467426.1_RNA																							gtctttactagttttttttttt	0.460													3	4	---	---	---	---					
RP11-384F7.1	0	broad.mit.edu	37	3	117956625	117956626	+	RNA	INS	-	-	CT	rs72435356	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:117956625_117956626insCT	ENST00000482142.1	-	0	232																											CTCACTGTCCCGTgtctccttt	0.406													5	4	---	---	---	---					
COL6A4P2	646300	broad.mit.edu	37	3	129953220	129953221	+	RNA	INS	-	-	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:129953220_129953221insC	ENST00000507516.3	+	0	391																											CCCTATCCTAACCCCCCCAGCC	0.376													2	4	---	---	---	---					
ANAPC13	25847	broad.mit.edu	37	3	134197443	134197444	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:134197443_134197444insG	ENST00000510994.1	-	3	943_944	c.213_214insC	c.(211-216)ccttggfs	p.W72fs	ANAPC13_ENST00000514612.1_Frame_Shift_Ins_p.W72fs|ANAPC13_ENST00000511751.1_Frame_Shift_Ins_p.W72fs|ANAPC13_ENST00000354910.5_Frame_Shift_Ins_p.W72fs	NM_001242374.1	NP_001229303.1	Q9BS18	APC13_HUMAN	anaphase promoting complex subunit 13	72					cell division|mitosis|protein K11-linked ubiquitination	anaphase-promoting complex				lung(1)|skin(1)	2						CAGTTTCCAATGGGGGGAACAT	0.421													7	278	---	---	---	---					
RP11-649A16.1	0	broad.mit.edu	37	3	147038259	147038260	+	RNA	INS	-	-	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:147038259_147038260insT	ENST00000473299.1	-	0	132																											CTTATTCTGGGTTTTTTTTTGG	0.337													2	4	---	---	---	---					
RP11-680B3.2	0	broad.mit.edu	37	3	148625776	148625777	+	RNA	INS	-	-	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:148625776_148625777insA	ENST00000488190.1	-	0	162																											AACAAAAAAACAAAAAAAAACG	0.441													3	3	---	---	---	---					
LINC01214	101928022	broad.mit.edu	37	3	149995288	149995289	+	RNA	INS	-	-	T	rs71691125	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:149995288_149995289insT	ENST00000471222.2	-	0	30																											CTCCTTTACtgttttttttgtt	0.347													3	6	---	---	---	---					
RP11-439C8.1	0	broad.mit.edu	37	3	154575615	154575615	+	RNA	DEL	T	T	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:154575615delT	ENST00000478814.1	-	0	226																											TGTAATTTAATTTTAAGTAAA	0.353													3	3	---	---	---	---					
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(940-945)atggggfs	p.MG314fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	314										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381													7	179	---	---	---	---					
RP11-324C10.1	0	broad.mit.edu	37	3	172899830	172899835	+	RNA	DEL	GTGTGT	GTGTGT	-	rs72065636		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:172899830_172899835delGTGTGT	ENST00000447709.1	+	0	22																											TTATAATGGGgtgtgtgtgtgtgtgt	0.388													2	4	---	---	---	---					
LINC00578	100505566	broad.mit.edu	37	3	177350919	177350919	+	RNA	DEL	A	A	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:177350919delA	ENST00000442937.1	+	0	428					NR_047568.1																						ATGAAGCTTTATGTAAGGCAT	0.289													2	4	---	---	---	---					
RP11-430L16.1	0	broad.mit.edu	37	3	187829526	187829537	+	RNA	DEL	GGTGTGGTGGCA	GGTGTGGTGGCA	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:187829526_187829537delGGTGTGGTGGCA	ENST00000449845.1	+	0	241																											aatttagctgggtgtggtggcagatgcctgta	0.514													2	4	---	---	---	---					
MIR570	693155	broad.mit.edu	37	3	195426368	195426369	+	RNA	INS	-	-	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr3:195426368_195426369insC	ENST00000384917.1	+	0	97																											cctgaTGGAGTCCCCCTTGCCA	0.426													3	4	---	---	---	---					
RP11-17E2.2	0	broad.mit.edu	37	4	22317666	22317667	+	RNA	INS	-	-	A	rs144117015	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:22317666_22317667insA	ENST00000510705.3	+	0	859																											AAAATACTATGAAAAAAAAAAC	0.431													3	4	---	---	---	---					
LOC439933	439933	broad.mit.edu	37	4	36247202	36247203	+	RNA	INS	-	-	TTA	rs35980385	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:36247202_36247203insTTA	ENST00000499292.2	+	0	235																											AAGCGCAGACCTTATGAAAATG	0.431													4	2	---	---	---	---					
RP11-722M1.1	0	broad.mit.edu	37	4	36582744	36582745	+	RNA	INS	-	-	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:36582744_36582745insA	ENST00000505298.1	-	0	366																											aagcgttcatgaaaaaaaatgt	0.272													4	6	---	---	---	---					
RP11-227F19.1	0	broad.mit.edu	37	4	41756835	41756836	+	RNA	DEL	TC	TC	-	rs61595795		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:41756835_41756836delTC	ENST00000508038.1	+	0	294				RP11-227F19.2_ENST00000510602.1_lincRNA																							CAAAGGAGCAtctctctctctc	0.406													2	4	---	---	---	---					
LOC101928851	101928851	broad.mit.edu	37	4	58323827	58323827	+	RNA	DEL	A	A	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:58323827delA	ENST00000510956.1	+	0	544																											tggtactgatacaaaaacaga	0.358													3	4	---	---	---	---					
LINC01378	103689918	broad.mit.edu	37	4	118412233	118412234	+	RNA	INS	-	-	T	rs11348979		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:118412233_118412234insT	ENST00000422145.3	+	0	159																											TTAACCTTAGATTTTTTTTCAT	0.262													4	2	---	---	---	---					
RP11-679C8.2	0	broad.mit.edu	37	4	121275876	121275876	+	RNA	DEL	T	T	-	rs59863638		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:121275876delT	ENST00000508362.1	+	0	286				RP11-679C8.2_ENST00000504106.1_RNA																							GTGCACTATCTTTTTTTTTTT	0.353													4	5	---	---	---	---					
RP11-51M24.1	0	broad.mit.edu	37	4	175276170	175276171	+	RNA	INS	-	-	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:175276170_175276171insT	ENST00000508815.1	-	0	269																											TTGAGAATTCATTTTTTTCATC	0.332													2	4	---	---	---	---					
RP11-130F10.1	0	broad.mit.edu	37	4	178490099	178490099	+	RNA	DEL	A	A	-	rs34752529		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr4:178490099delA	ENST00000507023.1	+	0	581																											CATGACCTTTAAGAACAGCAG	0.358													5	3	---	---	---	---					
RP11-122F24.1	0	broad.mit.edu	37	5	7077392	7077393	+	RNA	INS	-	-	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:7077392_7077393insC	ENST00000512838.1	+	0	154																											CTGACTTGGCACCCCCCAGGGG	0.624													2	4	---	---	---	---					
CTD-2066L21.3	0	broad.mit.edu	37	5	33296699	33296699	+	RNA	DEL	T	T	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:33296699delT	ENST00000510327.1	-	0	179																											GCATTAGTTATTTTTATCATT	0.358													2	4	---	---	---	---					
PART1	25859	broad.mit.edu	37	5	59818446	59818452	+	RNA	DEL	CTTAGTC	CTTAGTC	-	rs112970049	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:59818446_59818452delCTTAGTC	ENST00000504876.2	+	0	1817_1823					NR_028509.1																						ATACAGACTTCTTAGTCAGTTTCTGTC	0.401													2	4	---	---	---	---					
CTC-340D7.1	0	broad.mit.edu	37	5	68155476	68155477	+	RNA	INS	-	-	A	rs60852150		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:68155476_68155477insA	ENST00000503268.1	-	0	377																		p.0?(1)									ATTGATGAGCTAAAAAAAAAAA	0.381													3	4	---	---	---	---					
CTC-340D7.1	0	broad.mit.edu	37	5	68162151	68162151	+	RNA	DEL	A	A	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:68162151delA	ENST00000503268.1	-	0	377																		p.0?(1)									aaaccagtgcaaaaaaaaacc	0.423													2	4	---	---	---	---					
LOC102477328	102477328	broad.mit.edu	37	5	71921802	71921802	+	RNA	DEL	A	A	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:71921802delA	ENST00000512573.1	-	0	103																											agactccgtcaaaaaaaaaaa	0.498													3	3	---	---	---	---					
RP11-168A11.1	0	broad.mit.edu	37	5	79233503	79233503	+	RNA	DEL	C	C	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:79233503delC	ENST00000503167.1	+	0	302																											aaagttgactccctatgtagg	0.398													5	1	---	---	---	---					
VCAN	1462	broad.mit.edu	37	5	82835163	82835164	+	Frame_Shift_Ins	INS	-	-	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:82835163_82835164insA	ENST00000265077.3	+	8	6906_6907	c.6341_6342insA	c.(6340-6342)aacfs	p.N2114fs	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Frame_Shift_Ins_p.N1127fs|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2114	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAAAGTGAAACAACATCAGAGG	0.376													7	118	---	---	---	---					
LINC01339	101929495	broad.mit.edu	37	5	89567978	89567979	+	RNA	INS	-	-	TGTG	rs144937795	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:89567978_89567979insTGTG	ENST00000519336.1	-	0	176																											AGGAAAAGAACTGTGTGTGTGT	0.450													2	4	---	---	---	---					
RP11-348J24.2	0	broad.mit.edu	37	5	91543031	91543032	+	RNA	INS	-	-	A	rs150089596	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:91543031_91543032insA	ENST00000502934.1	+	0	172																											TATACTTATTGctggtatatat	0.342													4	3	---	---	---	---					
CTD-2007H13.3	0	broad.mit.edu	37	5	98309092	98309094	+	RNA	DEL	AAG	AAG	-	rs58867273		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:98309092_98309094delAAG	ENST00000513175.1	+	0	141																											gagaagaagaaagaagaggaaga	0.384													6	0	---	---	---	---					
STARD4-AS1	100505678	broad.mit.edu	37	5	110899745	110899746	+	RNA	INS	-	-	T	rs143950809	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:110899745_110899746insT	ENST00000500779.2	+	0	283					NR_040093.1																						GGTTCTCACTATTTTTTTTTTA	0.332													2	4	---	---	---	---					
STARD4-AS1	100505678	broad.mit.edu	37	5	110924762	110924762	+	RNA	DEL	T	T	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:110924762delT	ENST00000500779.2	+	0	283					NR_040093.1																						CTTCTAAGTGTTTTAAGGACT	0.323													2	4	---	---	---	---					
LOC102546229	102546229	broad.mit.edu	37	5	133766633	133766634	+	RNA	INS	-	-	A	rs77025317		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:133766633_133766634insA	ENST00000512748.1	-	0	25																											tctgtctcaggaaaaaaaaaaa	0.431													2	4	---	---	---	---					
RP11-114H21.2	0	broad.mit.edu	37	5	135835815	135835816	+	RNA	INS	-	-	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:135835815_135835816insT	ENST00000511165.1	+	0	209																											ctttgttcatcttttttttttt	0.411													3	3	---	---	---	---					
CTC-207P7.1	0	broad.mit.edu	37	5	163588155	163588155	+	RNA	DEL	T	T	-	rs72352508		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:163588155delT	ENST00000521805.1	-	0	495																											TGTGtttttgttttttttttt	0.428													2	4	---	---	---	---					
LINC01411	101928176	broad.mit.edu	37	5	173778686	173778686	+	RNA	DEL	T	T	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr5:173778686delT	ENST00000510234.1	+	0	82																											ACCAGGCTAGTTTTTTTTTTT	0.388													3	3	---	---	---	---					
RP11-35J1.1	0	broad.mit.edu	37	6	77249918	77249918	+	RNA	DEL	T	T	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:77249918delT	ENST00000455554.2	-	0	216																											GTAAGAAAGATTTTTTTTTGT	0.323													2	4	---	---	---	---					
RIPPLY2	134701	broad.mit.edu	37	6	84563838	84563838	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:84563838delC	ENST00000369689.1	+	3	348	c.197delC	c.(196-198)acfs	p.T66fs	RIPPLY2_ENST00000369687.1_Frame_Shift_Del_p.T8fs	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	66					somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						CCTGGAATGACCGCAGCCTCA	0.582													8	47	---	---	---	---					
RP11-436D23.1	0	broad.mit.edu	37	6	98441933	98441933	+	RNA	DEL	A	A	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:98441933delA	ENST00000607823.1	+	0	267																											TCTTCTCTTGAAAAAAACCTG	0.323													2	4	---	---	---	---					
LINC00326	285735	broad.mit.edu	37	6	133415446	133415446	+	RNA	DEL	T	T	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr6:133415446delT	ENST00000457339.1	+	0	1750																											AGCTATTTCATGTGGATGCAA	0.398													2	4	---	---	---	---					
AC004538.3	0	broad.mit.edu	37	7	11325039	11325039	+	RNA	DEL	T	T	-	rs71027404		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:11325039delT	ENST00000421121.1	+	0	113				AC004538.3_ENST00000441110.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000599875.1_RNA																							gttcccaatattttttttttt	0.318													2	4	---	---	---	---					
AC009508.1	0	broad.mit.edu	37	7	23933222	23933223	+	RNA	INS	-	-	GTGTGT	rs71931610	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:23933222_23933223insGTGTGT	ENST00000412828.1	-	0	75																											TCCCTGATGCAgtgtgtgtgtg	0.411													6	1	---	---	---	---					
CREB5	9586	broad.mit.edu	37	7	28849029	28849029	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:28849029delC	ENST00000357727.2	+	9	1642	c.1252delC	c.(1252-1254)agfs	p.Q418fs	CREB5_ENST00000396299.2_Frame_Shift_Del_p.Q385fs|CREB5_ENST00000396300.2_Frame_Shift_Del_p.Q411fs|CREB5_ENST00000396298.2_Frame_Shift_Del_p.Q279fs|CREB5_ENST00000409603.1_Frame_Shift_Del_p.Q385fs	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	418	Leucine-zipper.				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CATGCAGCTTCAGGTGCAGCC	0.567													7	20	---	---	---	---					
NPSR1-AS1	404744	broad.mit.edu	37	7	34452080	34452080	+	RNA	DEL	A	A	-	rs112532750		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:34452080delA	ENST00000419766.1	-	0	404					NR_033664.1|NR_033665.1																						aacaaaagttaaaaaaaaaaa	0.323													5	2	---	---	---	---					
SEPT7-AS1	101928545	broad.mit.edu	37	7	35799495	35799495	+	RNA	DEL	A	A	-	rs74599488		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:35799495delA	ENST00000437235.2	-	0	375																											actctgtctcaaaaaaaaaaa	0.478													2	4	---	---	---	---					
INHBA-AS1	285954	broad.mit.edu	37	7	41804936	41804937	+	RNA	INS	-	-	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:41804936_41804937insT	ENST00000415848.2	+	0	358					NR_027118.1																						Ctttttctttcttttttttttt	0.411													2	4	---	---	---	---					
GS1-18A18.2	0	broad.mit.edu	37	7	54643995	54643996	+	RNA	INS	-	-	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:54643995_54643996insA	ENST00000439027.1	-	0	515																											ccctgggagggaaaaaagaaag	0.480													2	4	---	---	---	---					
LOC100128317	100128317	broad.mit.edu	37	7	81233561	81233561	+	RNA	DEL	G	G	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:81233561delG	ENST00000413944.2	-	0	314																											aattgagcaagggagtttcca	0.458													2	4	---	---	---	---					
RP11-142A5.1	0	broad.mit.edu	37	7	91074577	91074577	+	RNA	DEL	T	T	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:91074577delT	ENST00000456952.1	-	0	112																											TCTGGTGGCCTTttttagatt	0.453													2	4	---	---	---	---					
LOC101927914	101927914	broad.mit.edu	37	7	157274877	157274881	+	RNA	DEL	TGTGT	TGTGT	-	rs148997040		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr7:157274877_157274881delTGTGT	ENST00000444158.1	+	0	2547																											atgtgtgttgtgtgttgtgttgtgt	0.444													2	4	---	---	---	---					
RP11-563N12.2	0	broad.mit.edu	37	8	20225522	20225522	+	RNA	DEL	A	A	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:20225522delA	ENST00000521139.1	+	0	422																											ACAGCCAAACAAAAATCATTA	0.358													2	4	---	---	---	---					
RP11-473J6.1	0	broad.mit.edu	37	8	35762815	35762816	+	RNA	INS	-	-	GTGT	rs142140958	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:35762815_35762816insGTGT	ENST00000523748.1	+	0	366																											CAGCAATTGAAgtgtgtgtgtg	0.441													3	3	---	---	---	---					
RP11-962G15.1	0	broad.mit.edu	37	8	36533412	36533413	+	RNA	INS	-	-	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:36533412_36533413insC	ENST00000524132.1	-	0	484																											CACCACTACAGCCCCCAACATC	0.376													2	4	---	---	---	---					
LOC101929268	101929268	broad.mit.edu	37	8	49471824	49471825	+	RNA	INS	-	-	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:49471824_49471825insT	ENST00000522575.1	+	0	356																											ttctttctttctttttttgtct	0.317													2	4	---	---	---	---					
LOC101929415	101929415	broad.mit.edu	37	8	57449601	57449602	+	RNA	INS	-	-	T	rs151248126		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:57449601_57449602insT	ENST00000518662.1	+	0	827				RP11-17A4.3_ENST00000523724.1_lincRNA|LINC00968_ENST00000499425.1_lincRNA																							GATATTCCTTGTTTTTTTTTTT	0.411													2	4	---	---	---	---					
RP11-531A24.5	0	broad.mit.edu	37	8	73964793	73964793	+	RNA	DEL	T	T	-	rs60659159		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:73964793delT	ENST00000517664.1	+	0	381																											TTACtttttcttttttttgtt	0.468													5	3	---	---	---	---					
RP11-6I2.3	0	broad.mit.edu	37	8	74979779	74979779	+	RNA	DEL	G	G	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:74979779delG	ENST00000519323.1	+	0	303																											gttagagtttgacacagtgac	0.443													9	2	---	---	---	---					
C8orf37-AS1	100616530	broad.mit.edu	37	8	96320229	96320230	+	RNA	DEL	TG	TG	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:96320229_96320230delTG	ENST00000521905.1	+	0	126																											AGAGGAGGAATGTGTGTGTGTG	0.450													2	4	---	---	---	---					
C8orf37-AS1	100616530	broad.mit.edu	37	8	96515922	96515922	+	RNA	DEL	A	A	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:96515922delA	ENST00000521905.1	+	0	281																											TTGAAAGAGGAAAAAAAAAAT	0.448													2	4	---	---	---	---					
KB-1460A1.1	0	broad.mit.edu	37	8	102136021	102136021	+	RNA	DEL	T	T	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:102136021delT	ENST00000524369.1	-	0	360																											cttctctacattttttttttt	0.502													7	7	---	---	---	---					
LOC101927172	101927172	broad.mit.edu	37	8	102488382	102488389	+	RNA	DEL	AAACAAAC	AAACAAAC	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:102488382_102488389delAAACAAAC	ENST00000520268.1	-	0	50																											ctctgtctcaaaacaaacaaacaaacaa	0.442													4	4	---	---	---	---					
RP11-1101K5.1	0	broad.mit.edu	37	8	112429965	112429965	+	RNA	DEL	T	T	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:112429965delT	ENST00000521753.1	+	0	268																											tctttgctcattttttttgtg	0.234													2	4	---	---	---	---					
RP11-369K17.1	0	broad.mit.edu	37	8	121999087	121999088	+	RNA	INS	-	-	TTG	rs3069481	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:121999087_121999088insTTG	ENST00000517739.1	+	0	95																											tctagccatgcttggaaaaagt	0.366													3	5	---	---	---	---					
RP11-785H20.1	0	broad.mit.edu	37	8	122899745	122899746	+	RNA	INS	-	-	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:122899745_122899746insT	ENST00000523550.1	+	0	161																											actctaatccatttttaattag	0.347													2	4	---	---	---	---					
RP11-398G24.2	0	broad.mit.edu	37	8	123035063	123035064	+	RNA	INS	-	-	TCCTT	rs142767211	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:123035063_123035064insTCCTT	ENST00000523792.1	-	0	160																											ctcccctcctctcctttccttt	0.470													3	4	---	---	---	---					
CCDC26	137196	broad.mit.edu	37	8	130444891	130444892	+	RNA	INS	-	-	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:130444891_130444892insT	ENST00000446592.3	-	0	360				RP11-26E5.1_ENST00000519048.1_lincRNA																							cctatccaccattttTTCTCAA	0.356													2	4	---	---	---	---					
LOC101927822	101927822	broad.mit.edu	37	8	134906172	134906173	+	RNA	DEL	CC	CC	-	rs141137808		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr8:134906172_134906173delCC	ENST00000520149.2	+	0	45																											cacacacacaccccccacaagc	0.441													2	4	---	---	---	---					
GLIS3	169792	broad.mit.edu	37	9	4303268	4303269	+	RNA	INS	-	-	ACAC	rs140532162	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:4303268_4303269insACAC	ENST00000440674.1	+	0	34																											TTAAAacacagacacacacaca	0.411													3	2	---	---	---	---					
LOC340512	340512	broad.mit.edu	37	9	109787554	109787555	+	RNA	INS	-	-	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr9:109787554_109787555insA	ENST00000439901.1	-	0	455																											CTATTTCACTTAAAAAAAGAAA	0.421													2	4	---	---	---	---					
ZNF248	57209	broad.mit.edu	37	10	38121846	38121847	+	Frame_Shift_Ins	INS	-	-	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:38121846_38121847insA	ENST00000395867.3	-	6	986_987	c.436_437insT	c.(436-438)tttfs	p.F146fs	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Frame_Shift_Ins_p.F146fs	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						ATTTTTCAAATTCATTTCACAT	0.322													28	77	---	---	---	---					
RP11-672F9.1	0	broad.mit.edu	37	10	38567892	38567892	+	RNA	DEL	G	G	-	rs150659523		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:38567892delG	ENST00000450980.1	+	0	144																											agggggtagaggaatagtcac	0.388													7	8	---	---	---	---					
CUBNP1	728064	broad.mit.edu	37	10	43199591	43199591	+	RNA	DEL	C	C	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:43199591delC	ENST00000439913.1	+	0	1655																											TAAGTTGTCTCTATATGGAAG	0.413													17	36	---	---	---	---					
LOC101926942	101926942	broad.mit.edu	37	10	92191304	92191304	+	RNA	DEL	A	A	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:92191304delA	ENST00000418379.1	-	0	394																											AAGGGTGAGGAAGAAATAACA	0.403													2	4	---	---	---	---					
OLMALINC	90271	broad.mit.edu	37	10	102137846	102137846	+	RNA	DEL	A	A	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:102137846delA	ENST00000454935.1	+	0	398																											agactgtctcaaaaaaaaaaa	0.483													2	4	---	---	---	---					
RP11-282I1.1	0	broad.mit.edu	37	10	125132386	125132387	+	RNA	INS	-	-	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr10:125132386_125132387insC	ENST00000448347.1	+	0	586																											CCAAGGACAGACCCCCAGGCCC	0.525													2	4	---	---	---	---					
RP11-148I19.1	0	broad.mit.edu	37	11	42123432	42123432	+	RNA	DEL	G	G	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:42123432delG	ENST00000534059.1	-	0	220																											tagacacagaggtctaacaat	0.353													3	4	---	---	---	---					
RP11-94P11.4	0	broad.mit.edu	37	11	105175639	105175641	+	RNA	DEL	AAG	AAG	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:105175639_105175641delAAG	ENST00000528811.1	-	0	96																											TTCTGCTCTTAAGGAGTTATAAT	0.340													8	1	---	---	---	---					
AP000797.3	0	broad.mit.edu	37	11	115633644	115633645	+	RNA	INS	-	-	TT	rs34828768	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr11:115633644_115633645insTT	ENST00000539305.1	+	0	163																											GATAGTATACCTTTTTTTTTCT	0.396													3	3	---	---	---	---					
LINC00937	389634	broad.mit.edu	37	12	8506230	8506230	+	RNA	DEL	T	T	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:8506230delT	ENST00000544461.1	-	0	1081				RP11-113C12.4_ENST00000537764.1_RNA																							ttcttgctgattagagttccc	0.363													2	4	---	---	---	---					
RP11-174G6.1	0	broad.mit.edu	37	12	14869798	14869798	+	RNA	DEL	G	G	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:14869798delG	ENST00000501178.2	+	0	247																											taagtgtcttgggaaccctca	0.388													11	2	---	---	---	---					
RP11-352M15.1	0	broad.mit.edu	37	12	45984522	45984523	+	RNA	DEL	TG	TG	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:45984522_45984523delTG	ENST00000551229.2	-	0	173																											CCATGGGGTATGTGTGTGTGTG	0.337													2	4	---	---	---	---					
LOC100288798	100288798	broad.mit.edu	37	12	46807653	46807653	+	RNA	DEL	T	T	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:46807653delT	ENST00000551503.1	+	0	261																											TTTTTTAGCATTTTTTTTTTG	0.368													3	5	---	---	---	---					
LINC00592	283404	broad.mit.edu	37	12	52613628	52613629	+	RNA	INS	-	-	TT	rs142263066		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:52613628_52613629insTT	ENST00000549830.2	+	0	633					NR_027358.1																						ATGTTTTGCCAttttttttttt	0.401													4	3	---	---	---	---					
FLJ12825	440101	broad.mit.edu	37	12	54497545	54497546	+	RNA	INS	-	-	T	rs144888465	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:54497545_54497546insT	ENST00000515617.1	+	0	311					NR_026655.1																						ctgttctcttctgaatgccctt	0.525													4	5	---	---	---	---					
RP11-335O4.3	0	broad.mit.edu	37	12	68064661	68064662	+	RNA	INS	-	-	TCTTCT	rs11282620		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:68064661_68064662insTCTTCT	ENST00000425371.2	-	0	37_38																											ATGCTTTTGTAtcttcttcttc	0.322													2	4	---	---	---	---					
IFNG-AS1	100885789	broad.mit.edu	37	12	68477041	68477042	+	RNA	DEL	TC	TC	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:68477041_68477042delTC	ENST00000536914.1	+	0	336																											attccagaattctcaaaagtcc	0.401													2	4	---	---	---	---					
RP11-511B23.2	0	broad.mit.edu	37	12	93582370	93582373	+	RNA	DEL	CTTT	CTTT	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:93582370_93582373delCTTT	ENST00000547432.1	-	0	316				RP11-511B23.2_ENST00000549930.1_RNA																							TCCTCCAACCCTTTCTTTCTTTTT	0.392													4	8	---	---	---	---					
RP11-328J6.1	0	broad.mit.edu	37	12	103542960	103542960	+	RNA	DEL	A	A	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:103542960delA	ENST00000548594.1	-	0	167				RP11-328J6.1_ENST00000548415.1_RNA																							GTTGATTTTCAAAAAAATTCC	0.328													2	4	---	---	---	---					
RP11-357K6.3	0	broad.mit.edu	37	12	119338386	119338387	+	RNA	DEL	TC	TC	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:119338386_119338387delTC	ENST00000544515.1	-	0	95																											CATTTGTCTTTCCTCTGACTGC	0.396													2	4	---	---	---	---					
RP11-768F21.1	0	broad.mit.edu	37	12	119983623	119983623	+	RNA	DEL	A	A	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:119983623delA	ENST00000509470.2	-	0	418																											AGTCTTCCCCAAAAAACAGAG	0.428													2	4	---	---	---	---					
FAM101A	144347	broad.mit.edu	37	12	124736921	124736921	+	RNA	DEL	A	A	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:124736921delA	ENST00000540762.1	+	0	444																											actccgtctcaaaaaaaaaaa	0.478													2	4	---	---	---	---					
LOC100190940	100190940	broad.mit.edu	37	12	130524949	130524949	+	RNA	DEL	A	A	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr12:130524949delA	ENST00000567788.1	-	0	1139				RP11-474D1.4_ENST00000561864.1_lincRNA																							aaattatttgaatgtatcaaa	0.289													2	4	---	---	---	---					
TPT1-AS1	100190939	broad.mit.edu	37	13	45925271	45925271	+	RNA	DEL	T	T	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:45925271delT	ENST00000517509.1	+	0	226				TPT1-AS1_ENST00000523506.1_RNA|TPT1-AS1_ENST00000521336.1_RNA|TPT1-AS1_ENST00000520590.1_RNA|TPT1-AS1_ENST00000520622.1_RNA|TPT1-AS1_ENST00000520310.1_RNA|TPT1-AS1_ENST00000412946.2_RNA|TPT1-AS1_ENST00000521507.1_RNA|TPT1-AS1_ENST00000523445.1_RNA|RP11-290D2.3_ENST00000420693.1_lincRNA	NR_024458.1																						agGGCAGAGATTTTTTTTTTT	0.413													2	4	---	---	---	---					
RNF219-AS1	100874222	broad.mit.edu	37	13	78846020	78846021	+	RNA	INS	-	-	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:78846020_78846021insT	ENST00000607862.1	+	0	230				RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606803.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000606187.1_RNA|RNF219-AS1_ENST00000605996.1_RNA|RNF219-AS1_ENST00000560209.2_RNA																							cacttcacctctttgaaccata	0.327													2	4	---	---	---	---					
LINC00559	100874187	broad.mit.edu	37	13	90761726	90761727	+	RNA	INS	-	-	TG	rs34656668	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:90761726_90761727insTG	ENST00000569476.1	-	0	947					NR_047489.1																						TAATAAGAGATtgtgtgtgtgt	0.351													2	4	---	---	---	---					
NALCN-AS1	100885778	broad.mit.edu	37	13	101516638	101516638	+	RNA	DEL	T	T	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr13:101516638delT	ENST00000457843.1	+	0	141					NR_047687.1																						tctgttcttcttttttttttt	0.373													3	3	---	---	---	---					
SRP54-AS1	100506157	broad.mit.edu	37	14	35390295	35390296	+	RNA	INS	-	-	T	rs113610910		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:35390295_35390296insT	ENST00000556355.1	-	0	524																											CACATATTGCAttttttttttt	0.436													4	8	---	---	---	---					
LINC00639	283547	broad.mit.edu	37	14	39323375	39323376	+	RNA	INS	-	-	AC	rs34093569	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:39323375_39323376insAC	ENST00000553932.1	-	0	154																											CTCTCTCTCTTacacacacaca	0.525													2	4	---	---	---	---					
AL163953.3	0	broad.mit.edu	37	14	53770224	53770224	+	RNA	DEL	T	T	-	rs5808712		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:53770224delT	ENST00000435322.1	+	0	165																											AGCAGAATGATTTTAAGGACT	0.383													6	3	---	---	---	---					
OTX2-AS1	100309464	broad.mit.edu	37	14	57316729	57316730	+	RNA	INS	-	-	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:57316729_57316730insG	ENST00000534909.2	+	0	287				OTX2-AS1_ENST00000554358.1_RNA|OTX2-AS1_ENST00000554428.1_RNA|OTX2-AS1_ENST00000554725.1_RNA	NR_029385.1																						aaaaagtgtttggggggcagag	0.455													2	4	---	---	---	---					
OTX2-AS1	100309464	broad.mit.edu	37	14	57508423	57508424	+	RNA	INS	-	-	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:57508423_57508424insC	ENST00000554725.1	+	0	344																											TTCCTGTCCAGCCCCCCTTTGC	0.465													8	205	---	---	---	---					
OTX2-AS1	100309464	broad.mit.edu	37	14	57603232	57603233	+	RNA	INS	-	-	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:57603232_57603233insA	ENST00000554725.1	+	0	344																											TTCACATACACAAAAAAATTAA	0.366													2	4	---	---	---	---					
RP11-486O13.4	0	broad.mit.edu	37	14	70988888	70988889	+	RNA	INS	-	-	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:70988888_70988889insC	ENST00000556646.1	-	0	183																											TACTTCTACTGCCCCCTTTGGC	0.431													3	4	---	---	---	---					
RP11-1152H15.1	0	broad.mit.edu	37	14	88221776	88221777	+	RNA	INS	-	-	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:88221776_88221777insC	ENST00000554305.1	-	0	335																											tatcacatgtaccccccaaata	0.332													2	4	---	---	---	---					
RP11-349I1.2	0	broad.mit.edu	37	14	94919677	94919678	+	RNA	INS	-	-	AT	rs146179735	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:94919677_94919678insAT	ENST00000536735.1	+	0	171																											cttcacttagaataatagtctc	0.371													4	5	---	---	---	---					
DICER1-AS1	400242	broad.mit.edu	37	14	95636500	95636502	+	RNA	DEL	TTT	TTT	-	rs34094758		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:95636500_95636502delTTT	ENST00000554631.1	+	0	1391				DICER1-AS1_ENST00000439819.1_RNA|DICER1-AS1_ENST00000435343.1_RNA																							TTTACTCTCCttttttttttttt	0.448													2	4	---	---	---	---					
RP11-61O1.1	0	broad.mit.edu	37	14	98549813	98549814	+	RNA	INS	-	-	C	rs111272174		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr14:98549813_98549814insC	ENST00000555776.1	-	0	121																											CAAAAAGAAAATTAAATATTGT	0.347													2	4	---	---	---	---					
HERC2P3	283755	broad.mit.edu	37	15	20595617	20595618	+	RNA	INS	-	-	A	rs138187612		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:20595617_20595618insA	ENST00000428453.1	-	0	4041																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GGGTTGACAATAAAAAATGTAC	0.317													4	8	---	---	---	---					
MAP1A	4130	broad.mit.edu	37	15	43819801	43819801	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:43819801delC	ENST00000382031.1	+	5	6875	c.6844delC	c.(6844-6846)ccfs	p.P2283fs	MAP1A_ENST00000300231.5_Frame_Shift_Del_p.P2045fs|MAP1A_ENST00000399453.1_Frame_Shift_Del_p.P2045fs			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2045						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACCCACTGTACCCCCAAGGCC	0.607													7	63	---	---	---	---					
RP11-208K4.1	0	broad.mit.edu	37	15	48255686	48255687	+	RNA	INS	-	-	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:48255686_48255687insT	ENST00000560900.1	+	0	195																											GCAGTGTGCCCCCTGCGGGCAG	0.540													3	3	---	---	---	---					
RP11-108K3.1	0	broad.mit.edu	37	15	51478988	51478988	+	RNA	DEL	C	C	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:51478988delC	ENST00000559909.1	+	0	194																											ACGGTTTTCTCCTCCTAGTAT	0.498													2	4	---	---	---	---					
RP11-507B12.2	0	broad.mit.edu	37	15	61903453	61903453	+	RNA	DEL	A	A	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:61903453delA	ENST00000559783.1	-	0	35																											GGTGTAGGAGAACAGGGAGGG	0.502													5	11	---	---	---	---					
LINC00593	414926	broad.mit.edu	37	15	70131784	70131785	+	RNA	INS	-	-	TTCT	rs149402466	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:70131784_70131785insTTCT	ENST00000560853.1	+	0	122					NR_026764.1																						Atttttttttcttctttttttt	0.460													5	1	---	---	---	---					
ANKRD34C-AS1	729911	broad.mit.edu	37	15	79541525	79541526	+	RNA	INS	-	-	T	rs34151052	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:79541525_79541526insT	ENST00000560533.1	-	0	349																											atcggttacaattgttgtttga	0.460													4	4	---	---	---	---					
RP11-648K4.2	0	broad.mit.edu	37	15	88246532	88246533	+	RNA	INS	-	-	C			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:88246532_88246533insC	ENST00000560439.1	-	0	80																											tccctgccctgccccccgaccc	0.465													2	4	---	---	---	---					
LINC01581	101927112	broad.mit.edu	37	15	94483342	94483343	+	RNA	DEL	AC	AC	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:94483342_94483343delAC	ENST00000558874.1	-	0	2257				CTD-2643K12.2_ENST00000555364.1_lincRNA																							tctctactaaacacacacacac	0.554													3	6	---	---	---	---					
RP11-315L6.1	0	broad.mit.edu	37	15	97817284	97817285	+	RNA	DEL	AG	AG	-	rs72524597		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:97817284_97817285delAG	ENST00000559394.1	-	0	106																											gtccaaaatcagtaccagtggg	0.441													4	4	---	---	---	---					
CTD-2544M6.1	0	broad.mit.edu	37	15	98759288	98759289	+	RNA	INS	-	-	AA	rs56413254		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:98759288_98759289insAA	ENST00000560360.1	-	0	291																											aaaaaaaaaacaaaacaaaaaa	0.455													3	5	---	---	---	---					
RP11-20G13.3	0	broad.mit.edu	37	15	99936660	99936661	+	RNA	INS	-	-	A	rs146652361	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr15:99936660_99936661insA	ENST00000561362.1	-	0	108																											TATCTCCATTTAAAAAAATCAA	0.366													4	3	---	---	---	---					
CAPN15	6650	broad.mit.edu	37	16	599091	599098	+	Frame_Shift_Del	DEL	GCGACCCC	GCGACCCC	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:599091_599098delGCGACCCC	ENST00000219611.2	+	5	1911_1918	c.1548_1555delGCGACCCC	c.(1546-1557)ctagfs	p.LRPQ516fs	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		GGCAGTGGCTGCGACCCCAGGAGATCAA	0.639													4	6	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5538752	5538752	+	RNA	DEL	A	A	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:5538752delA	ENST00000569895.1	+	0	343																											ggaggattatagtgatgatgg	0.448													3	6	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5843776	5843781	+	RNA	DEL	ATGTGC	ATGTGC	-	rs113370155		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:5843776_5843781delATGTGC	ENST00000569895.1	+	0	403																											gcatgtgtgtatgtgcatgtgcatgt	0.510													5	2	---	---	---	---					
AC004125.3	0	broad.mit.edu	37	16	24250024	24250025	+	RNA	INS	-	-	CA	rs71889263		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:24250024_24250025insCA	ENST00000567624.1	+	0	52																											acacacacactcacacacacac	0.485													2	4	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32030898	32030900	+	RNA	DEL	TTT	TTT	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:32030898_32030900delTTT	ENST00000566806.1	-	0	499																											ATCCAGTGGGttttttttttttt	0.429													4	6	---	---	---	---					
RP11-67H24.2	0	broad.mit.edu	37	16	32830850	32830850	+	RNA	DEL	G	G	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:32830850delG	ENST00000569859.1	+	0	373																											caatccatatgcttgttgact	0.294													2	4	---	---	---	---					
CDH11	1009	broad.mit.edu	37	16	64981776	64981776	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:64981776delC	ENST00000268603.4	-	13	2736	c.2121delG	c.(2119-2121)ggfs	p.G707fs	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Frame_Shift_Del_p.G581fs	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	707					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTGGCCGGAGCCCAGGTCTAG	0.512			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			25	141	---	---	---	---					
LINC00922	283867	broad.mit.edu	37	16	65462513	65462514	+	RNA	INS	-	-	T	rs77803779	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:65462513_65462514insT	ENST00000569736.1	-	0	217				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1																						gacaacccatattttttttttc	0.322													2	4	---	---	---	---					
LINC00922	283867	broad.mit.edu	37	16	65521162	65521165	+	RNA	DEL	ACAA	ACAA	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:65521162_65521165delACAA	ENST00000569736.1	-	0	217					NR_027755.1																						GAATTCAAAGACAAACACTTACAG	0.373													3	5	---	---	---	---					
LOC101927978	101927978	broad.mit.edu	37	16	72711719	72711720	+	RNA	INS	-	-	CA	rs139659538	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:72711719_72711720insCA	ENST00000563328.2	+	0	164																											ccaaaagaatccacacacacac	0.347													4	3	---	---	---	---					
CTD-2336H13.2	0	broad.mit.edu	37	16	76844995	76844996	+	RNA	INS	-	-	GTTA	rs145117741	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:76844995_76844996insGTTA	ENST00000567777.1	+	0	138																											acaatgtgcaggttacatatat	0.376													3	3	---	---	---	---					
LOC102724084	102724084	broad.mit.edu	37	16	80414643	80414643	+	RNA	DEL	T	T	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:80414643delT	ENST00000565050.1	-	0	598				RP11-525K10.3_ENST00000568819.1_RNA|RP11-525K10.3_ENST00000568776.1_RNA																							gagtggtgcctttataagaag	0.498													2	4	---	---	---	---					
LOC102724084	102724084	broad.mit.edu	37	16	80517686	80517687	+	RNA	INS	-	-	G			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr16:80517686_80517687insG	ENST00000565050.1	-	0	598				RP11-525K10.3_ENST00000568819.1_RNA|RP11-525K10.3_ENST00000568776.1_RNA																							ccatgacacatggggataatgg	0.465													2	4	---	---	---	---					
AC004231.2	0	broad.mit.edu	37	17	39125980	39125980	+	RNA	DEL	T	T	-	rs34537300		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:39125980delT	ENST00000418393.1	+	0	385																											ttcaatactgttttttcaata	0.328													4	6	---	---	---	---					
LINC00974	147093	broad.mit.edu	37	17	39709059	39709060	+	RNA	INS	-	-	AC	rs71298094	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:39709059_39709060insAC	ENST00000456403.1	-	0	216					NR_038442.1																						aacacacacaaacacacacaca	0.495													3	6	---	---	---	---					
ABCC3	8714	broad.mit.edu	37	17	48750448	48750449	+	Frame_Shift_Ins	INS	-	-	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:48750448_48750449insA	ENST00000285238.8	+	18	2438_2439	c.2358_2359insA	c.(2356-2361)gcagcafs	p.A787fs		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	787	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CTCATGTGGCCAAGCACATCTT	0.604													7	182	---	---	---	---					
RP11-60A24.3	0	broad.mit.edu	37	17	55891383	55891383	+	RNA	DEL	A	A	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:55891383delA	ENST00000580960.1	-	0	254																											tctacaagagaaaaaaaaatt	0.502													2	4	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	RNA	DEL	T	T	-	rs71816198		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:60347260delT	ENST00000581291.1	-	0	581																				breast(2)|kidney(1)|lung(2)	5						CTCTGAATGATTTTTTTTTTT	0.448													3	5	---	---	---	---					
CTD-2378E21.1	0	broad.mit.edu	37	17	68311035	68311036	+	RNA	INS	-	-	T	rs5821767		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr17:68311035_68311036insT	ENST00000592809.1	-	0	176																											ccctcttccagttttttttttt	0.510													5	2	---	---	---	---					
RP11-449D8.5	0	broad.mit.edu	37	18	22383785	22383785	+	RNA	DEL	A	A	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr18:22383785delA	ENST00000582650.1	+	0	235																											actctgcctcaaaaaaaaaaa	0.428													2	4	---	---	---	---					
LINC00669	647946	broad.mit.edu	37	18	37318954	37318955	+	RNA	DEL	TG	TG	-	rs34105927		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr18:37318954_37318955delTG	ENST00000591629.1	-	0	282					NR_024391.1																						GGGgtgtgtttgtgtgtgtgtg	0.416													3	3	---	---	---	---					
RP11-846C15.2	0	broad.mit.edu	37	18	42755381	42755382	+	RNA	INS	-	-	A	rs35466031	by1000genomes	TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr18:42755381_42755382insA	ENST00000589845.1	-	0	290				RP11-846C15.2_ENST00000587276.1_RNA																							AGAAAACGTTTAAAAAAAAATC	0.347													2	4	---	---	---	---					
LOXHD1	125336	broad.mit.edu	37	18	44109233	44109234	+	Frame_Shift_Ins	INS	-	-	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr18:44109233_44109234insT	ENST00000536736.1	-	29	4435_4436	c.4436_4437insA	c.(4435-4437)agtfs	p.S1479fs	LOXHD1_ENST00000300591.6_Frame_Shift_Ins_p.S368fs|LOXHD1_ENST00000441893.2_Frame_Shift_Ins_p.S412fs|LOXHD1_ENST00000441551.2_Frame_Shift_Ins_p.S1273fs|LOXHD1_ENST00000579038.1_Frame_Shift_Ins_p.S272fs|LOXHD1_ENST00000398722.4_Frame_Shift_Ins_p.S1201fs|LOXHD1_ENST00000582408.1_Frame_Shift_Ins_p.S368fs	NM_144612.6	NP_653213.6	Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	1201					sensory perception of sound	stereocilium	protein binding			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						TGATGTACACCTTGGCATCCGT	0.554													5	10	---	---	---	---					
LOC284294	284294	broad.mit.edu	37	18	61790719	61790719	+	RNA	DEL	T	T	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr18:61790719delT	ENST00000589376.1	+	0	145				LINC00305_ENST00000323355.3_lincRNA	NR_033881.1																						ATGCCCAGTCTTTTTTTAAAA	0.358													2	4	---	---	---	---					
LINC01538	400654	broad.mit.edu	37	18	61913040	61913041	+	RNA	INS	-	-	T	rs147258351		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr18:61913040_61913041insT	ENST00000588074.1	-	0	443				RP11-146N18.1_ENST00000589376.1_lincRNA	NR_033983.1																						tcctccagggattttttttttt	0.416													4	2	---	---	---	---					
CYP2B7P	1556	broad.mit.edu	37	19	41446032	41446032	+	RNA	DEL	T	T	-	rs143858940		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:41446032delT	ENST00000599198.1	+	0	699					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CTTCTCCCTGttttttttttt	0.313													4	2	---	---	---	---					
LIPE-AS1	100996307	broad.mit.edu	37	19	42957418	42957418	+	RNA	DEL	A	A	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:42957418delA	ENST00000594688.1	+	0	1450				LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594624.2_RNA	NR_073179.1																						atagaccaagaaaaaaaaaaa	0.453													2	4	---	---	---	---					
CTD-2245F17.3	0	broad.mit.edu	37	19	53701319	53701320	+	RNA	INS	-	-	TT	rs71972635		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr19:53701319_53701320insTT	ENST00000597550.1	+	0	152																											ACCCAGTATGCttttttttttt	0.545													3	5	---	---	---	---					
CASC20	101929244	broad.mit.edu	37	20	6468164	6468165	+	RNA	INS	-	-	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:6468164_6468165insA	ENST00000415932.1	+	0	218																											TGACCCGTAGGAAAAAAAATGA	0.342													2	4	---	---	---	---					
SNAP25-AS1	100131208	broad.mit.edu	37	20	10046179	10046188	+	RNA	DEL	AGAAAGAAAG	AGAAAGAAAG	-	rs35327000		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:10046179_10046188delAGAAAGAAAG	ENST00000603542.1	-	0	747				SNAP25-AS1_ENST00000421143.2_RNA	NR_040710.1																						aaaaaaagaaagaaagaaagagaaagaaag	0.371													2	4	---	---	---	---					
LINC01432	100270679	broad.mit.edu	37	20	22043609	22043609	+	RNA	DEL	T	T	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:22043609delT	ENST00000449427.1	+	0	92					NR_038394.1																						GGCGTGTGGCTTTTTTTTGGA	0.527													2	4	---	---	---	---					
APCDD1L-AS1	149773	broad.mit.edu	37	20	57157061	57157062	+	RNA	DEL	GA	GA	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr20:57157061_57157062delGA	ENST00000427140.1	+	0	943					NR_034147.1																						gagagagaaggagagagagaga	0.500													4	6	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11035002	11035003	+	RNA	INS	-	-	T			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr21:11035002_11035003insT	ENST00000470054.1	-	0	1476									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTCCTTATAGTATTAATTTTA	0.282													3	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11050075	11050077	+	RNA	DEL	GTT	GTT	-	rs55661652		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr21:11050075_11050077delGTT	ENST00000470054.1	-	0	487									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTAAGAAACGTTAATATCAATT	0.281													4	5	---	---	---	---					
MIR99AHG	388815	broad.mit.edu	37	21	17785782	17785782	+	RNA	DEL	A	A	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr21:17785782delA	ENST00000458468.1	+	0	469					NR_027790.1																						actccatctcaaaaaaaaaaa	0.388													2	4	---	---	---	---					
LINC00314	246705	broad.mit.edu	37	21	29392969	29392970	+	RNA	DEL	CA	CA	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr21:29392969_29392970delCA	ENST00000324988.3	+	0	70					NR_027246.1																						cgcacacacgcacacacacaca	0.475													2	4	---	---	---	---					
AP000346.2	0	broad.mit.edu	37	22	23978566	23978567	+	RNA	INS	-	-	A			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:23978566_23978567insA	ENST00000390329.2	-	0	313																											gagtatatttcagttctctctt	0.371													4	3	---	---	---	---					
LL22NC03-86D4.1	0	broad.mit.edu	37	22	34574200	34574203	+	RNA	DEL	CCTT	CCTT	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:34574200_34574203delCCTT	ENST00000412218.1	+	0	661																											tccctccctcccttccttctttcc	0.588													2	4	---	---	---	---					
IL2RB	3560	broad.mit.edu	37	22	37569390	37569390	+	RNA	DEL	T	T	-	rs57090696		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chr22:37569390delT	ENST00000419128.1	+	0	208																											ccatgtggggttttggctcac	0.498													2	4	---	---	---	---					
LOC101927501	101927501	broad.mit.edu	37	X	43070910	43070911	+	RNA	DEL	CA	CA	-	rs72434042		TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:43070910_43070911delCA	ENST00000440955.1	+	0	577																											tgcatgcatgcacacacacaca	0.569													4	2	---	---	---	---					
CNGA2	1260	broad.mit.edu	37	X	150911689	150911689	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z026-01A-01W-0746-08	TCGA-17-Z026-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb048ffc-de00-4706-85bb-d052c0fb6496	f1c94247-89eb-4b5a-abc6-8c01571695bc	g.chrX:150911689delG	ENST00000329903.4	+	6	747	c.714delG	c.(712-714)gtfs	p.V238fs		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	238					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.V238V(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ATTTTGCTGTGGACATCCACA	0.517													43	37	---	---	---	---