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
CPSF3L	54973	broad.mit.edu	37	1	1248063	1248063	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:1248063G>A	uc001aef.1	-	14	1843	c.1330C>T	c.(1330-1332)Ccg>Tcg	p.P444S	CPSF3L_uc009vjy.1_Non-coding_Transcript|CPSF3L_uc001aee.1_Missense_Mutation_p.P438S|CPSF3L_uc009vjz.1_Missense_Mutation_p.P416S|CPSF3L_uc010nyj.1_Missense_Mutation_p.P409S|CPSF3L_uc001aeg.1_Missense_Mutation_p.P314S|CPSF3L_uc001aeh.1_Missense_Mutation_p.P337S|CPSF3L_uc001aei.1_Missense_Mutation_p.P340S|CPSF3L_uc001aek.1_Missense_Mutation_p.P180S			Q5TA45	INT11_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3-like (CPSF3L), mRNA.	438						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	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)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		CCATTGGCCGGCATGTAGCAG	0.716												
KIF17	57576	broad.mit.edu	37	1	21014370	21014370	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:21014370G>A	uc001bdr.4	-	7	1567	c.1449C>T	c.(1447-1449)agC>agT	p.S483S	KIF17_uc001bdp.4_5'Flank|KIF17_uc009vpx.3_Intron|KIF17_uc001bds.4_Silent_p.S483S	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	483					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GGTACTCAGCGCTGCTGGCAA	0.532												
FOXJ3	22887	broad.mit.edu	37	1	42744223	42744223	+	Silent	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:42744223C>T	uc001che.3	-	4	477	c.165G>A	c.(163-165)aaG>aaA	p.K55K	FOXJ3_uc001chf.3_Silent_p.K55K|FOXJ3_uc001chh.2_Silent_p.K55K|FOXJ3_uc001chg.3_Silent_p.K55K	NM_001198851	NP_001185780	Q9UPW0	FOXJ3_HUMAN	Homo sapiens forkhead box J3 (FOXJ3), transcript variant 3, mRNA.	55					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGCATTCTTCTTAGAAATTC	0.453												
VCAM1	7412	broad.mit.edu	37	1	101197065	101197066	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:101197065_101197066delTA	uc001dti.3	+	5	1737_1738	c.1516_1517delTA	c.(1516-1518)tatfs	p.Y506fs	VCAM1_uc010ouj.2_Frame_Shift_Del_p.Y444fs|VCAM1_uc001dtj.3_Frame_Shift_Del_p.Y414fs	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	506	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GCAAACACTTTATGTCAATGGT	0.366												
IGSF3	3321	broad.mit.edu	37	1	117159063	117159063	+	Silent	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:117159063C>T	uc001egq.1	-	2	765	c.60G>A	c.(58-60)caG>caA	p.Q20Q	IGSF3_uc001egr.1_Silent_p.Q20Q	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	20	Ig-like C2-type 1.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TGACCTGCCGCTGTGCTGACA	0.527												
FLG	2312	broad.mit.edu	37	1	152275657	152275657	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:152275657G>T	uc001ezu.1	-	2	11741	c.11705C>A	c.(11704-11706)cCc>cAc	p.P3902H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3902	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.P3902L(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGGATCCGGGGTGTCTGGA	0.512									Ichthyosis			
SELE	6401	broad.mit.edu	37	1	169698774	169698774	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:169698774G>A	uc001ggm.4	-	5	913	c.756C>T	c.(754-756)ttC>ttT	p.F252F	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	252	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	p.F252F(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AACATTCCACGAACCCATTGG	0.428												
CCNY	219771	broad.mit.edu	37	10	35819172	35819172	+	Splice_Site	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr10:35819172G>A	uc001iyw.4	+	7	759	c.579_splice	c.e7+1	p.L193_splice	CCNY_uc001iyu.4_Splice_Site_p.L139_splice|CCNY_uc001iyv.4_Splice_Site_p.L139_splice|CCNY_uc001iyx.4_Splice_Site_p.L139_splice|CCNY_uc009xmb.3_Splice_Site_p.L168_splice|CCNY_uc010qet.2_Splice_Site_p.L60_splice	NM_145012	NP_859049	Q8ND76	CCNY_HUMAN	Homo sapiens cyclin Y (CCNY), transcript variant 1, mRNA.	193	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						CGTCACCCTGGTGAGTGCCCT	0.577												
PTEN	5728	broad.mit.edu	37	10	89720679	89720679	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr10:89720679C>T	uc001kfb.3	+	7	1862	c.830C>T	c.(829-831)aCa>aTa	p.T277I	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	277	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T277I(2)|p.W274_F341del(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.N276fs*15(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.T277fs*13(1)|p.N276K(1)|p.T277A(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGGTAAATACATTCTTCATA	0.284		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
HPS6	79803	broad.mit.edu	37	10	103827534	103827534	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr10:103827534C>T	uc001kuj.3	+	0	2411	c.2303C>T	c.(2302-2304)cCc>cTc	p.P768L		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	768						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		AGCACTCCACCCCCGACTCCA	0.592									Hermansky-Pudlak syndrome			
KRTAP5-4	387267	broad.mit.edu	37	11	1643000	1643000	+	Silent	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:1643000C>T	uc009ycy.1	-	1	306	c.219G>A	c.(217-219)aaG>aaA	p.K73K	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	168	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.S73S(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACAGCCCCCCTTGGAGCCCC	0.682												
NAP1L4	4676	broad.mit.edu	37	11	2975821	2975821	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:2975821C>T	uc010qxm.2	-	12	1255	c.971G>A	c.(970-972)cGt>cAt	p.R324H	NAP1L4_uc001lxb.3_5'Flank|NAP1L4_uc001lxc.3_Missense_Mutation_p.R324H|NAP1L4_uc010qxn.2_Missense_Mutation_p.R324H	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	324					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TATCCGCTCACGGAAAAAGTG	0.473												
OR52K1	390036	broad.mit.edu	37	11	4510426	4510426	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:4510426G>C	uc001lza.2	+	0	318	c.296G>C	c.(295-297)tGt>tCt	p.C99S		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCTTTGCCTGTCTGGTCCAG	0.502												
HTR3A	3359	broad.mit.edu	37	11	113856764	113856764	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:113856764G>A	uc010rxb.2	+	5	823	c.590G>A	c.(589-591)cGc>cAc	p.R197H	HTR3A_uc010rxa.2_Missense_Mutation_p.R197H|HTR3A_uc009yyx.3_Intron|HTR3A_uc010rxc.2_Missense_Mutation_p.R176H	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	191					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.R191H(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TCTTTGTGGCGCTTGCCAGAA	0.522												
AMICA1	120425	broad.mit.edu	37	11	118074267	118074267	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:118074267G>A	uc001psk.2	-	5	822	c.648C>T	c.(646-648)gaC>gaT	p.D216D	AMICA1_uc001psg.2_Silent_p.D26D|AMICA1_uc001psh.2_Silent_p.D177D|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Silent_p.D206D|AMICA1_uc010rxw.1_Silent_p.D177D|AMICA1_uc010rxx.1_Silent_p.D216D|AMICA1_uc001psl.1_Silent_p.D172D	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	216	Ig-like V-type 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGATGGAACCGTCATTGCGGA	0.512												
LPAR5	57121	broad.mit.edu	37	12	6729601	6729601	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:6729601G>A	uc009zer.2	-	1	1095	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	LPAR5_uc001qps.2_Missense_Mutation_p.R272C|LPAR5_uc010sff.1_Missense_Mutation_p.R272C|LPAR5_uc021qub.1_Missense_Mutation_p.R272C	NM_001142961	NP_065133	Q9H1C0	LPAR5_HUMAN	Homo sapiens lysophosphatidic acid receptor 5 (LPAR5), transcript variant 2, mRNA.	272						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						ACGCGATCGCGGGCAGGCACG	0.667												
PTPN6	5777	broad.mit.edu	37	12	7069104	7069104	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:7069104G>A	uc001qsb.2	+	11	1618	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	PTPN6_uc001qsa.1_Missense_Mutation_p.R461H|PTPN6_uc010sfr.1_Missense_Mutation_p.R420H|PTPN6_uc009zfl.1_Missense_Mutation_p.R459H|PTPN6_uc010sfs.1_Missense_Mutation_p.R447H	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	459	Substrate binding (By similarity).|Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GGCATCGGCCGCACAGGCACC	0.672												
KLRC2	3823	broad.mit.edu	37	12	10573119	10573119	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:10573119C>A	uc001qyi.1	-	0	76	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	KLRC2_uc001qyf.3_Missense_Mutation_p.V11L|KLRC2_uc021qvc.1_Missense_Mutation_p.V11L|KLRC2_uc001qyh.3_Intron|KLRC2_uc021qvd.1_Missense_Mutation_p.V11L	NM_007333	NP_031359	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA.	11					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						GCCAGACTCACTTCTGAGAAG	0.423												
KLRC2	3823	broad.mit.edu	37	12	10588555	10588555	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:10588555C>A	uc001qyh.3	-	0	38	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	KLRC2_uc010she.1_Missense_Mutation_p.V11L|KLRC2_uc001qyk.2_Missense_Mutation_p.V11L	NM_002261	NP_002252	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.	11					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						GCCAGACTCACTTCTGAGAAG	0.423												
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:11546320_11546322delTTG	uc010shk.1	-	2	725_727	c.690_692delCAA	c.(688-693)aacaag>aag	p.N230del		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601												
ADAMTS20	80070	broad.mit.edu	37	12	43944924	43944924	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:43944924G>A	uc010skx.2	-	1	241	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	81						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCAGTGAAGCGATAGTGGGTT	0.617												
TTC8	123016	broad.mit.edu	37	14	89336533	89336533	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr14:89336533G>T	uc010ath.3	+	10	1222	c.1088G>T	c.(1087-1089)cGg>cTg	p.R363L	TTC8_uc001xxi.3_Missense_Mutation_p.R347L|TTC8_uc001xxj.3_Missense_Mutation_p.R337L|TTC8_uc001xxk.3_Missense_Mutation_p.R307L|TTC8_uc001xxl.3_Missense_Mutation_p.R108L|TTC8_uc010ati.3_Missense_Mutation_p.R149L|TTC8_uc010atj.3_Missense_Mutation_p.R82L	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.	373					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ATAGCTCTCCGGTTTTACAGG	0.358												
DIO3	1735	broad.mit.edu	37	14	102028704	102028704	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr14:102028704C>T	uc021sdx.1	+	0	1017	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	265					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TTGGTTGGAACGCTATGATGA	0.592												
SEPT12	124404	broad.mit.edu	37	16	4836007	4836007	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr16:4836007G>A	uc002cxq.3	-	2	530	c.266C>T	c.(265-267)aCg>aTg	p.T89M	SEPT12_uc002cxr.3_Missense_Mutation_p.T89M|SEPT12_uc010bty.3_Non-coding_Transcript|LOC440335_uc021tcl.1_5'Flank|LOC440335_uc002cxt.3_5'Flank	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	89					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CAGCTGCAGCGTCTGGGGTGT	0.637												
ZNF768	79724	broad.mit.edu	37	16	30535933	30535933	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr16:30535933C>T	uc002dyk.4	-	1	1704	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	ZNF768_uc010vex.2_Missense_Mutation_p.E479K|ZNF768_uc010vew.2_Missense_Mutation_p.E479K	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	510					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TAAGGCCGCTCGCCACTGTGG	0.701												
CAMKK1	84254	broad.mit.edu	37	17	3779601	3779601	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr17:3779601G>A	uc002fwv.3	-	10	1174	c.1026C>T	c.(1024-1026)gaC>gaT	p.D342D	CAMKK1_uc002fwt.3_Silent_p.D304D|CAMKK1_uc002fwu.3_Silent_p.D304D	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	304	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ACAGCTGAGCGTCGTTCCCCT	0.612												
NF1	4763	broad.mit.edu	37	17	29662002	29662002	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr17:29662002C>T	uc002hgg.3	+	39	6342	c.5959C>T	c.(5959-5961)Cag>Tag	p.Q1987*	NF1_uc002hgh.3_Nonsense_Mutation_p.Q1966*|NF1_uc010cso.3_Nonsense_Mutation_p.Q175*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1987					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.Q1987*(2)|p.K1986fs*27(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAATGAAAAACAGATGTACCC	0.358			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
NF1	4763	broad.mit.edu	37	17	29667596	29667596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr17:29667596C>A	uc002hgg.3	+	46	7378	c.6995C>A	c.(6994-6996)tCa>tAa	p.S2332*	NF1_uc002hgh.3_Nonsense_Mutation_p.S2311*|NF1_uc010cso.3_Nonsense_Mutation_p.S520*|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2332					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.S2332*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AACTTGTATTCAGCAGGTACC	0.448			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
KRT37	8688	broad.mit.edu	37	17	39578641	39578641	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr17:39578641C>T	uc002hwp.1	-	3	825	c.778G>A	c.(778-780)Gag>Aag	p.E260K		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	260	Linker 12.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				ATGTCCAGCTCGATCCGGAAC	0.552												
CLEC4M	10332	broad.mit.edu	37	19	7831634	7831634	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr19:7831634G>A	uc010dvt.3	+	4	995	c.877G>A	c.(877-879)Gtc>Atc	p.V293I	CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc002mih.3_Missense_Mutation_p.V270I|CLEC4M_uc010xjw.2_Missense_Mutation_p.V226I|CLEC4M_uc010dvs.3_Missense_Mutation_p.V269I|CLEC4M_uc010xjx.2_Missense_Mutation_p.V242I|CLEC4M_uc002mhz.3_Missense_Mutation_p.V201I|CLEC4M_uc002mic.3_Missense_Mutation_p.V265I|CLEC4M_uc002mia.3_Missense_Mutation_p.V157I	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	293	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GCACGACTCCGTCACCGCCTG	0.597												
NCAN	1463	broad.mit.edu	37	19	19337603	19337603	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr19:19337603G>C	uc002nlz.3	+	6	1480	c.1381G>C	c.(1381-1383)Ggc>Cgc	p.G461R	NCAN_uc010ecc.1_Missense_Mutation_p.G25R	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	461					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CATGGGGGCAGGCACTGCAGC	0.642												
PAPL	390928	broad.mit.edu	37	19	39591969	39591969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr19:39591969C>T	uc002oki.3	+	9	1289	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	PAPL_uc010egl.3_Silent_p.N297N	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	339						extracellular region	acid phosphatase activity|metal ion binding										CTCGTATGAACGACTGTGGCC	0.597												
APOB	338	broad.mit.edu	37	2	21239331	21239331	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr2:21239331G>A	uc002red.3	-	20	3440	c.3312C>T	c.(3310-3312)gtC>gtT	p.V1104V		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1104					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)	CCATGAGGGCGACCTCAGTAA	0.478												
CD207	50489	broad.mit.edu	37	2	71058942	71058942	+	Silent	SNP	C	C	G			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr2:71058942C>G	uc002shg.3	-	4	773	c.726G>C	c.(724-726)ctG>ctC	p.L242L		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	242	C-type lectin.				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CTGTTTTATACAGAAACTCCT	0.537												
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr2:97869931A>T	uc010yva.2	+	49	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_uc002sxp.3_Non-coding_Transcript	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289												
ZAP70	7535	broad.mit.edu	37	2	98351172	98351172	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr2:98351172G>A	uc002syd.1	+	8	1286	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.R250H|ZAP70_uc002syf.1_Missense_Mutation_p.R53H	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	360	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TACCGCATGCGCAAGTATGGC	0.637												
MYO7B	4648	broad.mit.edu	37	2	128342397	128342399	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr2:128342397_128342399delCAA	uc002top.3	+	13	1652_1654	c.1599_1601delCAA	c.(1597-1602)gccaac>gcc	p.N535del		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	535	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCGTCCATGCCAACAACAAGGCC	0.571												
RSPO4	343637	broad.mit.edu	37	20	947858	947858	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr20:947858G>A	uc002wej.3	-	2	468	c.368C>T	c.(367-369)cCg>cTg	p.P123L	RSPO4_uc002wek.3_Missense_Mutation_p.P123L	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.	123					Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						AGTGCCCGGCGGGCAGGTGGG	0.647												
POTED	317754	broad.mit.edu	37	21	14982928	14982928	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr21:14982928G>A	uc002yjb.1	+	0	431	c.379G>A	c.(379-381)Gcc>Acc	p.A127T		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	127						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CGACCACAGCGCCTTCATGGA	0.597												
PRDM15	63977	broad.mit.edu	37	21	43291677	43291677	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr21:43291677C>T	uc002yzq.1	-	3	578	c.467G>A	c.(466-468)gGg>gAg	p.G156E	PRDM15_uc002yzo.3_Intron|PRDM15_uc002yzp.3_Intron|PRDM15_uc002yzr.1_Intron	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CACCTCATTCCCTAGAGATGT	0.582												
MICAL3	57553	broad.mit.edu	37	22	18274039	18274039	+	Silent	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr22:18274039C>A	uc002zng.4	-	29	6032	c.5679G>T	c.(5677-5679)ctG>ctT	p.L1893L	MICAL3_uc011agl.2_Silent_p.L1809L|MICAL3_uc010grd.2_Silent_p.L9L|MICAL3_uc010gre.2_Non-coding_Transcript	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1893						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ACTCCTGCATCAGCTTGGGGT	0.632												
NAGA	4668	broad.mit.edu	37	22	42458930	42458930	+	Silent	SNP	C	C	G			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr22:42458930C>G	uc003bbw.4	-	6	1403	c.858G>C	c.(856-858)ctG>ctC	p.L286L		NM_000262	NP_000253	P17050	NAGAB_HUMAN	Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.	286					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGATGGTACGCAGGTCTGTGG	0.557												
PKDREJ	10343	broad.mit.edu	37	22	46655208	46655208	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr22:46655208T>G	uc003bhh.3	-	0	4012	c.4012A>C	c.(4012-4014)Act>Cct	p.T1338P		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1338	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTGTCCAAAGTGGTATCAACA	0.398												
SCN5A	6331	broad.mit.edu	37	3	38592323	38592323	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr3:38592323C>T	uc021wvo.1	-	26	5592	c.5540G>A	c.(5539-5541)cGc>cAc	p.R1847H	SCN5A_uc021wvk.1_Missense_Mutation_p.R1814H|SCN5A_uc021wvl.1_Missense_Mutation_p.R1793H|SCN5A_uc021wvm.1_Missense_Mutation_p.R1829H|SCN5A_uc021wvn.1_Missense_Mutation_p.R1846H|SCN5A_uc021wvp.1_Missense_Mutation_p.R1847H|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.R1659H|SCN5A_uc021wvi.1_Missense_Mutation_p.R1713H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1847					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	p.R1847H(3)		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)	GCAATGGATGCGGTCCCCACT	0.557												
MORC1	27136	broad.mit.edu	37	3	108754309	108754309	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr3:108754309C>T	uc003dxl.3	-	14	1424	c.1337G>A	c.(1336-1338)aGa>aAa	p.R446K	MORC1_uc011bhn.2_Missense_Mutation_p.R446K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	446					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGTTAAATTTCTATTATCTTT	0.279												
BOD1L1	259282	broad.mit.edu	37	4	13606401	13606401	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:13606401G>C	uc003gmz.1	-	9	2240	c.2123C>G	c.(2122-2124)tCt>tGt	p.S708C	BOD1L1_uc010idr.1_Missense_Mutation_p.S45C	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	708	Lys-rich.						DNA binding										TGGTGTTTCAGAATCATCTTT	0.398												
SEPSECS	51091	broad.mit.edu	37	4	25125641	25125641	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:25125641T>C	uc003grg.3	-	10	1631	c.1418A>G	c.(1417-1419)tAt>tGt	p.Y473C	SEPSECS_uc003gri.3_Missense_Mutation_p.Y472C|SEPSECS_uc003grh.3_Missense_Mutation_p.Y394C	NM_016955	NP_058651	Q9HD40	SPCS_HUMAN	Homo sapiens Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase (SEPSECS), mRNA.	473					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	AGTTTTGTCATAATTGTCATC	0.378												
SLC34A2	10568	broad.mit.edu	37	4	25664233	25664236	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:25664233_25664236delAAGT	uc003grr.3	+	2	193	c.112_splice	c.e2+1	p.T38_splice	SLC34A2_uc003grs.3_Splice_Site_p.N38_splice|SLC34A2_uc010iev.3_Splice_Site_p.N38_splice	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	38					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AGACCAACAAAAGTAAGTGTCGCT	0.534			T	ROS1	NSCLC							
RBM47	54502	broad.mit.edu	37	4	40440818	40440818	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:40440818G>A	uc003gvc.2	-	3	803	c.93C>T	c.(91-93)aaC>aaT	p.N31N	RBM47_uc003gvd.2_Silent_p.N31N|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Intron|RBM47_uc003gvg.1_Silent_p.N31N	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	31						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTGCTGCCTCGTTGGGCGCGC	0.697												
ADAM29	11086	broad.mit.edu	37	4	175896931	175896931	+	Silent	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:175896931C>T	uc003iuc.3	+	4	925	c.255C>T	c.(253-255)gaC>gaT	p.D85D	ADAM29_uc003iud.3_Silent_p.D85D|ADAM29_uc010irr.3_Silent_p.D85D|ADAM29_uc011cki.2_Silent_p.D85D|ADAM29_uc021xuo.1_Silent_p.D85D	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	85					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.D85E(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCTACACAGACCAGGGTGCTA	0.473												
SLC6A19	340024	broad.mit.edu	37	5	1208942	1208942	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:1208942G>A	uc003jbw.4	+	1	340	c.284G>A	c.(283-285)cGg>cAg	p.R95Q		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	95					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ATCGGGCAGCGGCTGCGGCGG	0.677												
BASP1	10409	broad.mit.edu	37	5	17275409	17275409	+	Silent	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:17275409C>T	uc003jfx.3	+	1	263	c.84C>T	c.(82-84)ggC>ggT	p.G28G	BASP1_uc021xws.1_Silent_p.G28G	NM_006317	NP_006308	P80723	BASP1_HUMAN	Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.	28					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						AGGCCGAGGGCGCGGCGACGG	0.627												
HCN1	348980	broad.mit.edu	37	5	45262205	45262205	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:45262205C>A	uc003jok.3	-	7	2516	c.2491G>T	c.(2491-2493)Ggc>Tgc	p.G831C		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	831						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTGCTCCTGCCCCCTGCCTGA	0.677												
VCAN	1462	broad.mit.edu	37	5	82808046	82808046	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:82808046T>A	uc003kii.3	+	5	1229	c.873T>A	c.(871-873)ttT>ttA	p.F291L	VCAN_uc003kij.3_Missense_Mutation_p.F291L|VCAN_uc010jau.2_Missense_Mutation_p.F291L|VCAN_uc003kik.3_Missense_Mutation_p.F291L|VCAN_uc003kih.4_Missense_Mutation_p.F291L	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	291	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.G290S(1)		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)		GGAACGGCTTTGACCAGTGCG	0.602												
RAPGEF6	96459	broad.mit.edu	37	5	131042146	131042146	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:131042146C>T	uc003kvs.1	-	8	1014	c.872G>A	c.(871-873)cGc>cAc	p.R291H	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Missense_Mutation_p.R263H|RAPGEF6_uc010jdm.1_Missense_Mutation_p.R246H|RAPGEF6_uc003kvu.3_Missense_Mutation_p.R291H	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGTTTGGCTGCGTCGCCAACG	0.438												
PCDHAC2	56137	broad.mit.edu	37	5	140256419	140256419	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:140256419G>A	uc003lic.2	+	0	1489	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.A454A	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	468	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T454S(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGCCTGCGTTCGCGCAGC	0.652												
JAKMIP2	9832	broad.mit.edu	37	5	147040668	147040668	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:147040668G>A	uc010jgo.1	-	1	618	c.470C>T	c.(469-471)gCg>gTg	p.A157V	JAKMIP2_uc003loq.1_Missense_Mutation_p.A157V|JAKMIP2_uc011dbx.1_Missense_Mutation_p.A115V|JAKMIP2_uc003lor.1_Missense_Mutation_p.A157V|LOC153469_uc003lop.1_3'UTR	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	157						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCAGGTCCGCAATTTCCTG	0.542												
COL23A1	91522	broad.mit.edu	37	5	177690250	177690250	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:177690250C>T	uc021yiz.1	-	8	956	c.598G>A	c.(598-600)Gac>Aac	p.D200N	COL23A1_uc021yiy.1_5'UTR|COL23A1_uc010jkt.2_Silent_p.A47A	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	200	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	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)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TTCCCAGTGTCGCCAGGAGGG	0.637												
RNF8	9025	broad.mit.edu	37	6	37336605	37336605	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr6:37336605G>A	uc003onq.4	+	2	779	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	RNF8_uc003onr.4_Missense_Mutation_p.A196T|RNF8_uc011dtx.2_Missense_Mutation_p.A128T	NM_003958	NP_003949	O76064	RNF8_HUMAN	Homo sapiens ring finger protein 8 (RNF8), transcript variant 1, mRNA.	196					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						AGGTGAAGTGGCCAGTACACC	0.483												
PEX6	5190	broad.mit.edu	37	6	42937419	42937419	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr6:42937419G>A	uc003otf.3	-	4	1447	c.1354C>T	c.(1354-1356)Cgc>Tgc	p.R452C	PEX6_uc010jya.3_Non-coding_Transcript	NM_000287	NP_000278	Q13608	PEX6_HUMAN	Homo sapiens peroxisomal biogenesis factor 6 (PEX6), mRNA.	452					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	p.R452H(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GGCTGGAGGCGAGGCTTCAGG	0.567												
RFX6	222546	broad.mit.edu	37	6	117243268	117243268	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr6:117243268C>A	uc003pxm.3	+	12	1454	c.1391C>A	c.(1390-1392)gCt>gAt	p.A464D		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	464					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACTGTGGAGGCTTTTATTGAA	0.338												
PTPRK	5796	broad.mit.edu	37	6	128388894	128388894	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr6:128388894T>C	uc003qbk.3	-	11	2294	c.1927A>G	c.(1927-1929)Aag>Gag	p.K643E	PTPRK_uc010kfc.3_Missense_Mutation_p.K643E|PTPRK_uc003qbj.3_Missense_Mutation_p.K643E|PTPRK_uc011ebu.2_Missense_Mutation_p.K643E|PTPRK_uc003qbl.1_Missense_Mutation_p.K513E|PTPRK_uc011ebv.1_Missense_Mutation_p.K643E	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	643	Fibronectin type-III 4.	Cleavage (Probable).			cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCTTCTCTCTTGGTTCGGTGT	0.448												
ZDHHC4	55146	broad.mit.edu	37	7	6621848	6621849	+	Frame_Shift_Ins	INS	-	-	T	rs34551853		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:6621848_6621849insT	uc003sqi.3	+	5	694_695	c.336_337insT	c.(334-339)ctgtttfs	p.L112fs	ZDHHC4_uc003sql.3_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqj.3_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqh.3_Frame_Shift_Ins_p.L112fs	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	112						integral to membrane	acyltransferase activity|zinc ion binding	p.F115fs*3(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GTGTAAACCTGTTTTTTTTCAC	0.450												
TYW1B	441250	broad.mit.edu	37	7	72093938	72093938	+	Silent	SNP	G	G	A	rs149299985	by1000genomes	TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:72093938G>A	uc011kej.2	-	13	1707	c.1548C>T	c.(1546-1548)aaC>aaT	p.N516N	TYW1B_uc011keh.1_Silent_p.N354N|TYW1B_uc011kei.2_Silent_p.N143N	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.	517					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GCTCGTCCACGTTCCATGCTT	0.522												
ABCB4	5244	broad.mit.edu	37	7	87104766	87104766	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:87104766C>T	uc003uiv.1	-	1	92	c.16G>A	c.(16-18)Gca>Aca	p.A6T	ABCB4_uc003uiw.1_Missense_Mutation_p.A6T|ABCB4_uc003uix.1_Missense_Mutation_p.A6T|ABCB4_uc003uiy.3_Missense_Mutation_p.A6T	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	6					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CCGTTCTTTGCCGCCTCAAGA	0.647												
ZAN	7455	broad.mit.edu	37	7	100373053	100373053	+	Silent	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:100373053C>T	uc003uwj.3	+	32	6045	c.5880C>T	c.(5878-5880)tgC>tgT	p.C1960C	ZAN_uc003uwk.3_Silent_p.C1960C|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.C48C	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1961	VWFD 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGAAAGTGTGCCACCCCGCCA	0.547												
MUC17	140453	broad.mit.edu	37	7	100681607	100681607	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:100681607G>C	uc003uxp.1	+	2	6963	c.6910G>C	c.(6910-6912)Gtt>Ctt	p.V2304L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2304	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACAACTCCTGTTGACTCCAA	0.473												
RELN	5649	broad.mit.edu	37	7	103130205	103130205	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:103130205G>A	uc022ajr.1	-	59	9907	c.9747C>T	c.(9745-9747)tgC>tgT	p.C3249C	RELN_uc022ajq.1_Silent_p.C3249C|RELN_uc010liz.3_Silent_p.C3249C	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3249	EGF-like 8.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTCTCGTCGCAGATGCAGA	0.517												
ADAM7	8756	broad.mit.edu	37	8	24365011	24365012	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:24365011_24365012TC>AA	uc003xeb.3	+	20	2340_2341	c.2227_2228TC>AA	c.(2227-2229)tca>AAa	p.S743K	ADAM7_uc003xec.3_Intron	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	743					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.D742Y(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AAGTAAAGATTCAAGAGGAATC	0.396												
DOCK5	80005	broad.mit.edu	37	8	25158172	25158172	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:25158172C>G	uc003xeg.3	+	9	983	c.846_splice	c.e9+1	p.T282_splice	DOCK5_uc010luf.1_Splice_Site|DOCK5_uc003xeh.1_Intron|DOCK5_uc003xef.3_Splice_Site_p.T282_splice	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	282						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCAGTGTTTACAGTAAGTCCT	0.363												
EBF2	64641	broad.mit.edu	37	8	25715990	25715990	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:25715990G>A	uc003xes.2	-	13	1638	c.1373C>T	c.(1372-1374)cCg>cTg	p.P458L	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	458	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.P458L(3)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GTATCCCCGCGGAGAGATGCT	0.522												
TRPA1	8989	broad.mit.edu	37	8	72948651	72948651	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:72948651C>A	uc003xza.3	-	20	2602	c.2427G>T	c.(2425-2427)tgG>tgT	p.W809C	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	809						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGTAGATAATCCATTCAAGAA	0.363												
RIMS2	9699	broad.mit.edu	37	8	104930679	104930679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:104930679C>T	uc003yls.3	+	6	1622	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	RIMS2_uc003ylp.3_Nonsense_Mutation_p.R683*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R491*|RIMS2_uc003ylq.3_Nonsense_Mutation_p.R491*|RIMS2_uc003ylr.3_Nonsense_Mutation_p.R538*|RIMS2_uc003ylt.3_Nonsense_Mutation_p.R84*|RIMS2_uc003ylu.1_Nonsense_Mutation_p.R74*|RIMS2_uc003ylv.1_Nonsense_Mutation_p.R74*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	761					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)			AGATATACCGCGAATACCTGA	0.299										HNSCC(12;0.0054)		
RIMS2	9699	broad.mit.edu	37	8	105264036	105264036	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:105264036C>A	uc003yls.3	+	27	4333	c.4092C>A	c.(4090-4092)taC>taA	p.Y1364*	RIMS2_uc003ylp.3_Nonsense_Mutation_p.Y1346*|RIMS2_uc003ylq.3_Nonsense_Mutation_p.Y1160*|RIMS2_uc003ylr.3_Nonsense_Mutation_p.Y1185*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1408					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)			GACCTTCTTACTCTCGTTCAT	0.423										HNSCC(12;0.0054)		
SMARCA2	6595	broad.mit.edu	37	9	2039586	2039586	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:2039586G>A	uc003zhc.3	+	3	575	c.476G>A	c.(475-477)gGt>gAt	p.G159D	SMARCA2_uc003zhd.3_Missense_Mutation_p.G159D|SMARCA2_uc010mha.3_Missense_Mutation_p.G150D	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	159					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)		CTCATCCCAGGTGATCCGCAG	0.582												
VCP	7415	broad.mit.edu	37	9	35059646	35059647	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:35059646_35059647insT	uc003zvy.2	-	13	2236_2237	c.1847_1848insA	c.(1846-1848)aatfs	p.N616fs	VCP_uc010mkh.1_Frame_Shift_Ins_p.N285fs|VCP_uc010mki.1_Frame_Shift_Ins_p.N571fs	NM_007126	NP_009057	P55072	TERA_HUMAN	Homo sapiens valosin containing protein (VCP), mRNA.	616					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	p.N616fs*63(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGATGAACACATTTTTTTTTGT	0.515												
DAB2IP	153090	broad.mit.edu	37	9	124535257	124535257	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:124535257C>T	uc004bln.3	+	11	2435	c.2366C>T	c.(2365-2367)cCa>cTa	p.P789L	DAB2IP_uc004blo.3_Missense_Mutation_p.P693L|DAB2IP_uc004blp.3_Missense_Mutation_p.P222L	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	817					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GAGGGCGCGCCAGGCCGGCCC	0.726												
RBM18	92400	broad.mit.edu	37	9	125004210	125004210	+	Nonsense_Mutation	SNP	T	T	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:125004210T>A	uc004bma.2	-	5	692	c.526A>T	c.(526-528)Aaa>Taa	p.K176*	RBM18_uc004blz.2_Non-coding_Transcript|RBM18_uc010mvy.2_Non-coding_Transcript|RBM18_uc011lyp.1_Non-coding_Transcript	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	Homo sapiens RNA binding motif protein 18 (RBM18), transcript variant 1, mRNA.	176							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						GTAGTCCTTTTTTTATCTGGT	0.398												
RBM18	92400	broad.mit.edu	37	9	125004227	125004227	+	Missense_Mutation	SNP	A	A	C	rs111532590		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:125004227A>C	uc004bma.2	-	5	675	c.509T>G	c.(508-510)tTt>tGt	p.F170C	RBM18_uc004blz.2_Non-coding_Transcript|RBM18_uc010mvy.2_Non-coding_Transcript|RBM18_uc011lyp.1_Non-coding_Transcript	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	Homo sapiens RNA binding motif protein 18 (RBM18), transcript variant 1, mRNA.	170							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						TGGTGGCTTAAAGTAGGAATA	0.403												
