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
ZNRF4	148066	broad.mit.edu	37	19	5455986	5455986	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:5455986C>T	ENST00000222033.4	+	1	561	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	162	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CGTGCTGATCCGCCGCTACGA	0.667000													6	68					0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25780788	25780788	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:25780788C>T	ENST00000374343.4	+	4	567	c.388C>T	c.(388-390)Ctc>Ttc	p.L130F	TMEM57_ENST00000399766.3_Missense_Mutation_p.L130F|TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000470035.1_3'UTR	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	130						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCTGGATCCTCTTTGTTTA	0.383000													24	62					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													5	73					0	0	1	0	0
C17orf97	400566	broad.mit.edu	37	17	263198	263198	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:263198C>G	ENST00000360127.6	+	2	580	c.564C>G	c.(562-564)atC>atG	p.I188M	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	188										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GGATTCGCATCTATAAACTGA	0.567000													14	65					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8379305	8379305	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:8379305G>C	ENST00000332175.8	+	26	4751	c.3714G>C	c.(3712-3714)gaG>gaC	p.E1238D	PTPRM_ENST00000400060.4_Missense_Mutation_p.E1252D|PTPRM_ENST00000400053.4_Missense_Mutation_p.E1176D|PTPRM_ENST00000580170.1_Missense_Mutation_p.E1251D|PTPRM_ENST00000444013.1_Missense_Mutation_p.E1025D	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1238	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TCGATGGGGAGAGCAGCAACT	0.617000													16	63					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47680808	47680808	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr21:47680808C>G	ENST00000397708.1	-	16	3734	c.3480G>C	c.(3478-3480)gaG>gaC	p.E1160D	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1160D			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1160					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)					CCAGCTCTCTCTCTTGTTTCA	0.483000													18	58					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30937110	30937110	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:30937110C>G	ENST00000597505.1	-	25	3600	c.3601G>C	c.(3601-3603)Gag>Cag	p.E1201Q	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.E280Q			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)					GATTTCTTCTCCACCAAAACC	0.463000													18	88					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35661155	35661155	+	Silent	SNP	C	C	T	rs139292363	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:35661155C>T	ENST00000373664.3	-	16	2361	c.2295G>A	c.(2293-2295)caG>caA	p.Q765Q	RBL1_ENST00000344359.3_Silent_p.Q765Q	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	765	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCAGATTGGTCTGTTTTGGAG	0.388000													46	153					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:7578395G>T	ENST00000420246.2	-	5	667	c.535C>A	c.(535-537)Cat>Aat	p.H179N	TP53_ENST00000359597.4_Missense_Mutation_p.H179N|TP53_ENST00000269305.4_Missense_Mutation_p.H179N|TP53_ENST00000413465.2_Missense_Mutation_p.H179N|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179N|TP53_ENST00000455263.2_Missense_Mutation_p.H179N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)		CAGCGCTCATGGTGGGGGCAG	0.642000		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)			26	42					1.39806e-14	1.48589e-14	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79324833	79324833	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:79324833G>T	ENST00000428286.1	-	8	2480	c.1280C>A	c.(1279-1281)aCa>aAa	p.T427K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.T786K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	786					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACCATCATCTGTAGGATTTCC	0.493000													7	15					8.12818e-05	8.16842e-05	1	1	0
DOCK8	81704	broad.mit.edu	37	9	379800	379800	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:379800G>A	ENST00000432829.2	+	21	2582	c.2266G>A	c.(2266-2268)Gtg>Atg	p.V756M	DOCK8_ENST00000382331.1_Missense_Mutation_p.V126M|DOCK8_ENST00000469391.1_Missense_Mutation_p.V756M|DOCK8_ENST00000382329.1_Missense_Mutation_p.V291M|DOCK8_ENST00000453981.1_Missense_Mutation_p.V824M	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	824					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)		CTTCGAGTCCGTGGTGGCCAT	0.557000													25	115					0	0	1	0	0
LPCAT2	54947	broad.mit.edu	37	16	55563782	55563782	+	Missense_Mutation	SNP	C	C	T	rs142700202		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr16:55563782C>T	ENST00000262134.5	+	4	749	c.565C>T	c.(565-567)Cgt>Tgt	p.R189C		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	189					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TTTGGTGTCCCGTGTAGATCC	0.398000													4	12					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136587242	136587242	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:136587242G>A	ENST00000264162.2	-	3	735	c.725C>T	c.(724-726)aCg>aTg	p.T242M		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	242	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)		GAAATCGACCGTGTCCTGAAA	0.418000													18	63					0	0	1	0	0
EIF3L	51386	broad.mit.edu	37	22	38247441	38247441	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr22:38247441C>G	ENST00000406934.1	+	2	738	c.23C>G	c.(22-24)tCt>tGt	p.S8C	EIF3L_ENST00000412331.2_Silent_p.V79V|EIF3L_ENST00000381683.6_Silent_p.V79V|EIF3L_ENST00000476955.1_3'UTR			Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	0						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCAGTCGTGTCTCCAGTGATG	0.473000													12	20					0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97602196	97602196	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:97602196C>A	ENST00000371207.3	+	4	457	c.394C>A	c.(394-396)Cag>Aag	p.Q132K	ENTPD1_ENST00000543964.1_Missense_Mutation_p.Q12K|ENTPD1_ENST00000539125.1_Intron|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000371203.5_Intron|ENTPD1_ENST00000371205.4_Missense_Mutation_p.Q120K|ENTPD1_ENST00000453258.2_Missense_Mutation_p.Q127K	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	120					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TCCAAGGTCCCAGCACCAAGA	0.488000													16	80					1.15088e-07	1.19198e-07	1	1	0
IL5	3567	broad.mit.edu	37	5	131879115	131879115	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr5:131879115G>A	ENST00000231454.1	-	1	99	c.56C>T	c.(55-57)gCc>gTc	p.A19V		NM_000879.2	NP_000870.1	P05113	IL5_HUMAN	interleukin 5 (colony-stimulating factor, eosinophil)	19					immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly	extracellular space	cytokine activity|growth factor activity|interleukin-5 receptor binding			endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	TGTGGGGATGGCATACACGTA	0.458000													4	114					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													9	47					0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38349158	38349158	+	Missense_Mutation	SNP	G	G	A	rs146612743		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr3:38349158G>A	ENST00000273173.4	+	3	813	c.722G>A	c.(721-723)cGc>cAc	p.R241H	SLC22A14_ENST00000448498.1_Missense_Mutation_p.R241H	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	241						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TTGTTCTTTCGCTTTGGCATC	0.572000													33	122					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12984814	12984814	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:12984814G>A	ENST00000251472.4	+	26	3882	c.3843G>A	c.(3841-3843)gcG>gcA	p.A1281A		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	1281					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGAAGGGCGCGCTGCGCAAAC	0.677000													5	11					0	0	1	0	0
SLAIN2	57606	broad.mit.edu	37	4	48381835	48381835	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr4:48381835G>C	ENST00000264313.6	+	4	1250	c.832G>C	c.(832-834)Gta>Cta	p.V278L	SLAIN2_ENST00000512093.1_Missense_Mutation_p.V85L	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	278						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TGTAACTGATGTACAGATTCT	0.328000													38	113					0	0	1	0	0
C19orf45	374877	broad.mit.edu	37	19	7569219	7569219	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:7569219G>A	ENST00000361664.2	+	4	845	c.704G>A	c.(703-705)gGa>gAa	p.G235E		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	235										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						GTGGAGCTGGGAGACTGCAAG	0.612000													16	66					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62788576	62788576	+	RNA	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:62788576C>T	ENST00000582986.1	-	0	2033					NR_024386.1																						TCCACATGCTCGTACAGAGAC	0.632000													22	89					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135745824	135745824	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr3:135745824G>A	ENST00000264977.3	+	3	2763	c.2146G>A	c.(2146-2148)Gaa>Aaa	p.E716K	PPP2R3A_ENST00000490467.1_5'UTR|PPP2R3A_ENST00000492624.2_5'UTR|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E95K	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	716					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTACTTTCCTGAAGGACTCCC	0.428000													20	76					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695156	247695156	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:247695156C>T	ENST00000366487.3	-	2	1019	c.658G>A	c.(658-660)Ggc>Agc	p.G220S	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	220					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)			GCAATGTGGCCGTAAGAGACC	0.542000													4	77					0	0	1	0	0
MFF	56947	broad.mit.edu	37	2	228212087	228212087	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:228212087G>T	ENST00000353339.3	+	8	1180	c.739G>T	c.(739-741)Gat>Tat	p.D247Y	MFF_ENST00000392059.1_Missense_Mutation_p.D247Y|MFF_ENST00000524634.1_Intron|MFF_ENST00000476924.1_Intron|MFF_ENST00000409565.1_Intron|MFF_ENST00000304593.9_Missense_Mutation_p.D196Y|MFF_ENST00000349901.7_Intron|MFF_ENST00000354503.6_Intron|MFF_ENST00000337110.7_Intron|MFF_ENST00000409616.1_Intron	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	247						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						GGATGTGCTGGATGAAAATCG	0.448000													22	91					3.6726e-16	3.92389e-16	1	1	0
TIRAP	114609	broad.mit.edu	37	11	126160817	126160817	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:126160817C>T	ENST00000392679.1	+	3	311	c.28C>T	c.(28-30)Cct>Tct	p.P10S	TIRAP_ENST00000392678.3_Missense_Mutation_p.P10S|TIRAP_ENST00000392680.2_Missense_Mutation_p.P10S			P58753	TIRAP_HUMAN	toll-interleukin 1 receptor (TIR) domain containing adaptor protein	10					3'-UTR-mediated mRNA stabilization|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway	endocytic vesicle|intrinsic to membrane|ruffle membrane	phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|Toll-like receptor 2 binding|Toll-like receptor 4 binding|transmembrane receptor activity			breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		CCTCCCAGCTCCTGGCTCTCG	0.597000													8	11					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39726491	39726491	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr12:39726491G>A	ENST00000395670.3	-	20	3177	c.2758C>T	c.(2758-2760)Cgc>Tgc	p.R920C	KIF21A_ENST00000361961.3_Missense_Mutation_p.R907C|KIF21A_ENST00000544797.2_Missense_Mutation_p.R907C|KIF21A_ENST00000541463.2_Missense_Mutation_p.R884C|KIF21A_ENST00000361418.5_Missense_Mutation_p.R920C			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	920					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CACTTCATGCGAGCTGTCTTG	0.418000													15	66					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		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.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(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)		TCCGCCACTCGGGCGCTGCCC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			3	21					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	RNA	SNP	C	C	G	rs56290535	by1000genomes	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:78208916C>G	ENST00000565869.1	+	0	53																											TCCAGATGTTCTCCTCCATCT	0.627000													4	83					0	0	1	0	0
TNNT1	7138	broad.mit.edu	37	19	55649431	55649431	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:55649431C>G	ENST00000588981.1	-	10	603	c.399G>C	c.(397-399)atG>atC	p.M133I	TNNT1_ENST00000587465.2_Missense_Mutation_p.M63I|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000356783.5_Missense_Mutation_p.M122I|TNNT1_ENST00000587758.1_Missense_Mutation_p.M122I|TNNT1_ENST00000585321.2_Missense_Mutation_p.M63I|TNNT1_ENST00000291901.8_Missense_Mutation_p.M133I|TNNT1_ENST00000536926.1_Missense_Mutation_p.M122I|TNNT1_ENST00000588426.1_Missense_Mutation_p.M30I	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	133					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CTTCCTTCCTCATCTTCTCCT	0.567000													11	64					0	0	1	0	0
EXOSC7	23016	broad.mit.edu	37	3	45049058	45049058	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr3:45049058G>A	ENST00000265564.7	+	7	810	c.762G>A	c.(760-762)gaG>gaA	p.E254E	EXOSC7_ENST00000461361.1_3'UTR|CLEC3B_ENST00000490386.1_Intron	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	254					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		GCATCTTCGAGATGATGGAGG	0.612000													8	25					0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959819	45959819	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr21:45959819G>A	ENST00000400375.1	-	1	259	c.215C>T	c.(214-216)aCc>aTc	p.T72I	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	72	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCAGGAGCTGGTGCAGCCTGA	0.711000													4	151					0	0	1	0	0
ELAC1	55520	broad.mit.edu	37	18	48513077	48513077	+	Silent	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:48513077C>G	ENST00000269466.3	+	4	821	c.714C>G	c.(712-714)gtC>gtG	p.V238V	RP11-729L2.2_ENST00000590722.2_Intron|ELAC1_ENST00000588577.1_3'UTR|SMAD4_ENST00000452201.2_Intron|RP11-729L2.2_ENST00000588256.1_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	238					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		CCCAAGATGTCTTAAAAAAGC	0.433000													14	48					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38810443	38810443	+	Missense_Mutation	SNP	C	C	T	rs78877915	by1000genomes	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:38810443C>T	ENST00000359357.3	+	33	4212	c.3958C>T	c.(3958-3960)Cgt>Tgt	p.R1320C	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1537C|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1320C					dynein, axonemal, heavy chain 8									p.R1320C(2)		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						TGAAAGATGTCGTAAACTTCC	0.318000													13	48					0	0	1	0	0
C8orf46	254778	broad.mit.edu	37	8	67408707	67408707	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr8:67408707C>T	ENST00000305454.3	+	2	547	c.106C>T	c.(106-108)Cag>Tag	p.Q36*	C8orf46_ENST00000522977.1_Nonsense_Mutation_p.Q36*|C8orf46_ENST00000521495.1_Nonsense_Mutation_p.Q36*|C8orf46_ENST00000482608.2_3'UTR|C8orf46_ENST00000480005.1_Nonsense_Mutation_p.Q36*	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	36										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CAAAAGCTCTCAGCACCTCTT	0.418000													13	75					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31470893	31470893	+	Silent	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr16:31470893C>T	ENST00000457010.2	+	1	749	c.48C>T	c.(46-48)ctC>ctT	p.L16L	RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000563544.1_Silent_p.L16L|ARMC5_ENST00000538189.1_Silent_p.L48L|ARMC5_ENST00000408912.3_Silent_p.L111L|ARMC5_ENST00000268314.4_Silent_p.L16L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	16							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGTTCTGCCTCGCGCAGCTCG	0.716000													5	16					0	0	1	0	0
FBXL4	26235	broad.mit.edu	37	6	99374800	99374800	+	Missense_Mutation	SNP	C	C	T	rs147696366		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:99374800C>T	ENST00000369244.2	-	4	493	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	FBXL4_ENST00000229971.1_Missense_Mutation_p.R22Q			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	22					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TGTCCTGGCTCGGCGCCGAAG	0.453000													29	119					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23542504	23542504	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:23542504G>C	ENST00000300619.7	-	4	3482	c.3277C>G	c.(3277-3279)Cta>Gta	p.L1093V	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.L1061V	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1093						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGTCTAGTTAGGGTTGAAGAT	0.393000													9	50					0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53227001	53227001	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:53227001C>G	ENST00000262593.5	+	6	1024	c.674C>G	c.(673-675)tCt>tGt	p.S225C	DOK5_ENST00000395939.1_Missense_Mutation_p.S117C	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	225	IRS-type PTB.			SAALAIAEQH -> LLQMKMSERA (in Ref. 1; AAF66443).			insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			AAAGTCCACTCTGCTGCCTTG	0.498000													11	53					0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19641684	19641684	+	Silent	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:19641684C>T	ENST00000457500.2	-	9	1628	c.1299G>A	c.(1297-1299)ctG>ctA	p.L433L	ALDH3A1_ENST00000395555.3_Silent_p.L369L|ALDH3A1_ENST00000444455.1_Silent_p.L433L|ALDH3A1_ENST00000225740.6_Silent_p.L433L|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000494157.2_Silent_p.L360L	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	433					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CATCATTCATCAGAGGCCTCA	0.627000													26	95					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143994787	143994787	+	Silent	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr8:143994787C>G	ENST00000323110.2	-	6	1037	c.1035G>C	c.(1033-1035)ctG>ctC	p.L345L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	345					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CTGCGGCGGCCAGGCTCTCCT	0.637000									Familial Hyperaldosteronism type I				15	103					0	0	1	0	0
RGS5	8490	broad.mit.edu	37	1	163131767	163131767	+	Splice_Site	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:163131767C>G	ENST00000313961.5	-	3	433		c.e3-1		RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000534288.1_Splice_Site|RGS5_ENST00000527988.1_Intron|RGS5_ENST00000530507.1_Splice_Site|RGS5_ENST00000367903.3_Splice_Site	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5						negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			CAGCGAGGTTCTACATCAATA	0.423000													7	39					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141709461	141709461	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:141709461C>G	ENST00000389484.3	-	19	3907	c.2936G>C	c.(2935-2937)aGa>aCa	p.R979T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	979	LDL-receptor class A 6.				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)		GCTAATGCATCTTCCACTTTT	0.448000										TSP Lung(27;0.18)			8	50					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121623864	121623864	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr7:121623864C>G	ENST00000393386.2	+	7	1176	c.765C>G	c.(763-765)atC>atG	p.I255M	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I255M	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	255	Alpha-carbonic anhydrase.				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						CAGTTAGCATCTCTGAAAGCC	0.318000													21	79					0	0	1	0	0
SPIRE1	56907	broad.mit.edu	37	18	12452279	12452279	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:12452279G>A	ENST00000409402.4	-	16	2254	c.1987C>T	c.(1987-1989)Cat>Tat	p.H663Y	SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Missense_Mutation_p.H649Y|SPIRE1_ENST00000309836.5_Missense_Mutation_p.H452Y|SPIRE1_ENST00000453447.2_Missense_Mutation_p.H529Y	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	663						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						AGTGGCCGATGATGGGCAGTG	0.502000													7	40					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158449979	158449979	+	Missense_Mutation	SNP	G	G	A	rs147584404		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:158449979G>A	ENST00000355585.4	+	3	481	c.406G>A	c.(406-408)Gat>Aat	p.D136N	SYNJ2_ENST00000367121.3_Missense_Mutation_p.D136N|SYNJ2_ENST00000449859.2_Missense_Mutation_p.D85N|SYNJ2_ENST00000367122.2_Missense_Mutation_p.D136N	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	136	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATGGCCAAACGATGGGTCTCG	0.552000													16	54					0	0	1	0	0
NEK9	91754	broad.mit.edu	37	14	75576576	75576576	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr14:75576576T>C	ENST00000238616.5	-	10	1152	c.994A>G	c.(994-996)Agc>Ggc	p.S332G		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	332					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		GTCACAGTGCTTGACCTGCCA	0.428000													3	50					0	0	1	0	0
TBC1D7	51256	broad.mit.edu	37	6	13327061	13327061	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:13327061C>G	ENST00000607658.1	-	2	220	c.70G>C	c.(70-72)Gaa>Caa	p.E24Q	TBC1D7_ENST00000379300.3_Missense_Mutation_p.E24Q|TBC1D7_ENST00000379307.2_Missense_Mutation_p.E24Q|TBC1D7_ENST00000356436.4_Missense_Mutation_p.E24Q|TBC1D7_ENST00000343141.4_Missense_Mutation_p.E24Q|TBC1D7_ENST00000607532.1_5'UTR			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	24					positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			GATTTCTTTTCTTCAACTCCA	0.368000													15	55					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													3	53					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45889216	45889216	+	Splice_Site	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:45889216C>G	ENST00000418234.2	-	10	2026		c.e10-1		PPP1R13L_ENST00000360957.5_Splice_Site	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like						apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGTCGTTCATCTGAGTGCACC	0.657000													3	8					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12904896	12904896	+	Silent	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:12904896G>C	ENST00000380659.3	+	3	1408	c.1269G>C	c.(1267-1269)ctG>ctC	p.L423L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	423					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TTAAAAGACTGAAAGTCATAG	0.333000													22	82					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129870426	129870426	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:129870426C>T	ENST00000254667.3	+	16	1691	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	PTPRE_ENST00000419012.2_Missense_Mutation_p.S471F|PTPRE_ENST00000306042.5_Missense_Mutation_p.S413F	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	471	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GTGATCCTTTCCATGAAAAGG	0.418000													7	27					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76342415	76342415	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr5:76342415G>C	ENST00000312916.7	+	6	1496	c.1114G>C	c.(1114-1116)Gaa>Caa	p.E372Q		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	372					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AGAGGAAGGTGAAATTACAGA	0.373000													18	132					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	26022288	26022288	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:26022288G>A	ENST00000435504.4	-	5	662	c.369C>T	c.(367-369)aaC>aaT	p.N123N	ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Silent_p.N95N			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	123	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCCTCCTTGTTGCTGCCAC	0.458000													4	164					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47650381	47650381	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:47650381G>C	ENST00000507065.1	+	6	2160	c.1882G>C	c.(1882-1884)Gac>Cac	p.D628H	GPR111_ENST00000296862.1_Missense_Mutation_p.D696H|GPR111_ENST00000398742.2_Intron			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	696					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGATGCTTCTGACCAAGTGCA	0.433000													10	36					0	0	1	0	0
CORO2B	10391	broad.mit.edu	37	15	69003203	69003203	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:69003203G>A	ENST00000543950.1	+	4	805	c.451G>A	c.(451-453)Gct>Act	p.A151T	CORO2B_ENST00000566799.1_Missense_Mutation_p.A156T|CORO2B_ENST00000540068.1_Missense_Mutation_p.A151T|CORO2B_ENST00000261861.5_Missense_Mutation_p.A151T	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	156					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCTGTTCAGCGCTGGCTACGA	0.622000													3	10					0	0	1	0	0
WNT8B	7479	broad.mit.edu	37	10	102242120	102242120	+	Silent	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:102242120C>T	ENST00000343737.5	+	6	731	c.603C>T	c.(601-603)ttC>ttT	p.F201F		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	201					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TGCCCGAGTTCCGCGAGGTGG	0.682000											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	26					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23908832	23908832	+	Silent	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr13:23908832G>C	ENST00000382298.3	-	10	9771	c.9183C>G	c.(9181-9183)ctC>ctG	p.L3061L	SACS_ENST00000382292.3_Silent_p.L3061L|SACS_ENST00000402364.1_Silent_p.L2311L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3061					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTCTAAAAGGAGATGTTTCA	0.343000													9	45					0	0	1	0	0
MAP1LC3A	84557	broad.mit.edu	37	20	33147238	33147238	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:33147238G>A	ENST00000360668.3	+	3	945	c.184G>A	c.(184-186)Gag>Aag	p.E62K	MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.E62K|MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.E66K			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	62					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding	p.E66*(1)		cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						CAACATGAGCGAGTTGGTCAA	0.642000													9	26					0	0	1	0	0
BTNL2	56244	broad.mit.edu	37	6	32372949	32372949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:32372949C>T	ENST00000454136.3	-	2	198	c.194G>A	c.(193-195)tGg>tAg	p.W65*	BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374993.1_Nonsense_Mutation_p.W65*|BTNL2_ENST00000374995.3_Nonsense_Mutation_p.W65*|BTNL2_ENST00000429232.2_Nonsense_Mutation_p.W65*|BTNL2_ENST00000544175.1_Intron			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	65	Ig-like V-type 1.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TGAGCGGTACCACCTCACCTC	0.577000													30	96					0	0	1	0	0
RASL11A	387496	broad.mit.edu	37	13	27847630	27847630	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr13:27847630G>A	ENST00000241463.4	+	4	1346	c.728G>A	c.(727-729)tGa>tAa	p.*243*		NM_206827.1	NP_996563.1	Q6T310	RSLBA_HUMAN	RAS-like, family 11, member A	0					positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		GCACTGGGGTGAACTATCTCA	0.483000													9	36					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20657700	20657700	+	RNA	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:20657700C>T	ENST00000428453.1	-	0	2258																				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						CGCTGTGCTGCAGGGTGAGCA	0.602000													5	35					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140811313	140811313	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr5:140811313G>A	ENST00000252085.3	+	1	1129	c.987G>A	c.(985-987)gcG>gcA	p.A329A	PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATATTCTGCGCGAGCCAAAG	0.512000													33	94					0	0	1	0	0
IGLV2-33	28811	broad.mit.edu	37	22	22931032	22931032	+	RNA	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr22:22931032C>T	ENST00000390302.2	+	0	285																											AATACTCGGCCTTCAGGGATC	0.507000													46	244					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144994004	144994004	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr8:144994004C>G	ENST00000322810.4	-	32	10565	c.10396G>C	c.(10396-10398)Gag>Cag	p.E3466Q	PLEC_ENST00000398774.2_Missense_Mutation_p.E3297Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E3307Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E3329Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E3329Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E3333Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E3352Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E3356Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E3315Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3466	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTGAGCTGCTCAAACTGGGCT	0.677000													14	56					0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37488171	37488171	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:37488171G>A	ENST00000455427.2	+	9	1715	c.1386G>A	c.(1384-1386)caG>caA	p.Q462Q		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCGACATCAGAGTGTCCATA	0.448000													4	8					0	0	1	0	0
CRLF1	9244	broad.mit.edu	37	19	18710558	18710558	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:18710558C>T	ENST00000392386.3	-	2	407	c.214G>A	c.(214-216)Gag>Aag	p.E72K		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	72	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						TAGAGGCCCTCGGCGGTGGCT	0.662000													3	11					0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86824078	86824078	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr7:86824078C>A	ENST00000414194.2	+	17	3101	c.1309C>A	c.(1309-1311)Cat>Aat	p.H437N	DMTF1_ENST00000394703.5_Missense_Mutation_p.H703N|DMTF1_ENST00000432937.2_Missense_Mutation_p.H615N|DMTF1_ENST00000413276.2_Missense_Mutation_p.H633N|DMTF1_ENST00000331242.7_Missense_Mutation_p.H703N			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	703	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TCCTTCACCACATGGCTTTAT	0.333000													10	57					2.27111e-07	2.34028e-07	1	1	0
HIPK1	204851	broad.mit.edu	37	1	114483273	114483273	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:114483273G>C	ENST00000369558.1	+	2	500	c.268G>C	c.(268-270)Gat>Cat	p.D90H	HIPK1_ENST00000369555.2_Missense_Mutation_p.D90H|HIPK1_ENST00000426820.2_Missense_Mutation_p.D90H|HIPK1_ENST00000369554.2_Missense_Mutation_p.D90H|HIPK1_ENST00000369559.4_Missense_Mutation_p.D90H|HIPK1_ENST00000369561.4_Missense_Mutation_p.D90H			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACAGCCGCTGATAGCTCGGG	0.507000													18	97					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16893758	16893758	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:16893758C>G	ENST00000430580.2	-	25	3642	c.2755G>C	c.(2755-2757)Gaa>Caa	p.E919Q	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	919	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCAGTCAGTTCAAGATAACCT	0.493000													24	1036					0	0	1	0	0
STX16	8675	broad.mit.edu	37	20	57246299	57246299	+	Silent	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:57246299C>T	ENST00000371141.4	+	7	1462	c.738C>T	c.(736-738)tcC>tcT	p.S246S	STX16-NPEPL1_ENST00000530122.1_Silent_p.S246S|STX16_ENST00000358029.4_Silent_p.S242S|STX16_ENST00000496003.1_Intron|STX16_ENST00000359617.4_Silent_p.S193S|STX16_ENST00000371132.4_Silent_p.S225S|STX16_ENST00000355957.5_Silent_p.S229S|STX16_ENST00000361830.3_Silent_p.S246S|STX16_ENST00000361770.5_Silent_p.S229S	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	246	t-SNARE coiled-coil homology.				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TTGTACAGTCCATTTCTGACC	0.478000													18	101					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50243317	50243317	+	Splice_Site	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:50243317C>G	ENST00000246801.3	-	10	1703	c.1622_splice	c.e10+1	p.E541_splice	TSKS_ENST00000358830.3_Splice_Site_p.E341_splice	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	541							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CTTCCTCACTCTGGCTTCATC	0.622000													38	127					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101592104	101592104	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:101592104G>A	ENST00000284395.5	+	25	4019	c.3619G>A	c.(3619-3621)Gac>Aac	p.D1207N	LRRK1_ENST00000388948.3_Missense_Mutation_p.D1210N|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1210					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGACACCCGGACCTCCCCGT	0.617000													12	29					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79292223	79292223	+	Missense_Mutation	SNP	C	C	T	rs141523460	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:79292223C>T	ENST00000419573.3	-	18	2930	c.2656G>A	c.(2656-2658)Gtc>Atc	p.V886I	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.V870I|RASGRF1_ENST00000394745.3_Missense_Mutation_p.V102I	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	888					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAGGTCATGACGACTCCATTG	0.567000													19	73					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50893798	50893798	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr22:50893798C>T	ENST00000380817.2	-	33	4592	c.4409G>A	c.(4408-4410)cGc>cAc	p.R1470H	SBF1_ENST00000348911.6_Missense_Mutation_p.R1445H|SBF1_ENST00000390679.3_Missense_Mutation_p.R1444H	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1444	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTCCAGCGTGCGGTAGAAGGG	0.682000													3	49					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76776328	76776328	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:76776328G>A	ENST00000373344.5	-	34	7352	c.7138C>T	c.(7138-7140)Cag>Tag	p.Q2380*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q2342*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2380					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCAAGCTCCTGGCTGGCTTGT	0.373000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						22	64					0	0	1	0	0
ACAT2	39	broad.mit.edu	37	6	160189587	160189587	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:160189587G>T	ENST00000367048.4	+	4	2177	c.417G>T	c.(415-417)gaG>gaT	p.E139D	ACAT2_ENST00000541436.1_Missense_Mutation_p.E168D	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	139						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGATAGGTGAGATGCCACTGA	0.413000													26	93					9.86323e-18	1.05938e-17	1	1	0
CBLC	23624	broad.mit.edu	37	19	45296736	45296736	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:45296736G>A	ENST00000270279.3	+	8	1206	c.1143G>A	c.(1141-1143)tcG>tcA	p.S381S	CBLC_ENST00000341505.4_Silent_p.S335S	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	381					cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CCCAGCACTCGGACAGCCAGA	0.627000			M		AML								4	21					0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31134180	31134180	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:31134180G>A	ENST00000538351.1	-	8	2804	c.2050C>T	c.(2050-2052)Cat>Tat	p.H684Y	ZNF438_ENST00000331737.6_Missense_Mutation_p.H723Y|ZNF438_ENST00000361310.3_Missense_Mutation_p.H733Y|ZNF438_ENST00000452305.1_Missense_Mutation_p.H723Y|ZNF438_ENST00000413025.1_Missense_Mutation_p.H733Y|ZNF438_ENST00000444692.2_Missense_Mutation_p.H723Y|ZNF438_ENST00000375311.1_Missense_Mutation_p.H297Y|ZNF438_ENST00000436087.2_Missense_Mutation_p.H733Y|ZNF438_ENST00000442986.1_Missense_Mutation_p.H733Y	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CCATTCTGATGAAGGTGGAGC	0.542000													27	103					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57746152	57746152	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:57746152C>G	ENST00000269122.3	+	14	2417	c.2143C>G	c.(2143-2145)Ctg>Gtg	p.L715V	CLTC_ENST00000393043.1_Missense_Mutation_p.L715V|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	715	Heavy chain arm.|Proximal segment.				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)					CTTTTATTTTCTGGGATCCAT	0.328000			T	"""ALK, TFE3"""	"""ALCL, renal """								6	18					0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59789756	59789756	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr14:59789756C>A	ENST00000395125.1	+	5	610	c.587C>A	c.(586-588)gCt>gAt	p.A196D	DAAM1_ENST00000360909.3_Missense_Mutation_p.A196D|DAAM1_ENST00000351081.1_Missense_Mutation_p.A196D	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	196	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAAGGCCGGGCTCACGTCCTG	0.463000													9	34					1.12685e-05	1.14375e-05	1	1	0
KDM3B	51780	broad.mit.edu	37	5	137735605	137735605	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr5:137735605G>A	ENST00000314358.5	+	11	3303	c.3103G>A	c.(3103-3105)Gaa>Aaa	p.E1035K	KDM3B_ENST00000542866.1_Missense_Mutation_p.E67K|KDM3B_ENST00000394866.1_Missense_Mutation_p.E691K	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1035					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						TGATGTGTGTGAAACAACTCT	0.507000													17	53					0	0	1	0	0
CCDC172	374355	broad.mit.edu	37	10	118084573	118084573	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:118084573C>T	ENST00000333254.3	+	2	301	c.50C>T	c.(49-51)gCg>gTg	p.A17V	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1			coiled-coil domain containing 172																		GAGCATCAGGCGGAGGAGAGT	0.512000													14	42					0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47113116	47113116	+	Splice_Site	SNP	A	A	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:47113116A>G	ENST00000261292.4	+	9	1655	c.1376_splice	c.e9-1	p.K459_splice	LIPG_ENST00000427224.2_Splice_Site_p.K385_splice	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	459	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TCCCTCCTAGACTGACATTTT	0.507000													7	39					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216221935	216221935	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:216221935C>A	ENST00000366943.2	-	31	6490	c.6104G>T	c.(6103-6105)tGc>tTc	p.C2035F	USH2A_ENST00000307340.3_Missense_Mutation_p.C2035F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2035	Fibronectin type-III 6.				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)		AGCCAAAGTGCAAGCAGTTAG	0.413000										HNSCC(13;0.011)			24	113					6.12954e-19	6.61859e-19	1	1	0
CHSY1	22856	broad.mit.edu	37	15	101718821	101718821	+	Missense_Mutation	SNP	C	C	T	rs143549949		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:101718821C>T	ENST00000254190.3	-	3	1656	c.1181G>A	c.(1180-1182)cGa>cAa	p.R394Q	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	394					chondroitin sulfate biosynthetic process	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)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATTCCTCTTCGAGGGGGCTG	0.542000													22	72					0	0	1	0	0
USP51	158880	broad.mit.edu	37	X	55514102	55514102	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:55514102G>T	ENST00000500968.3	-	2	1353	c.1271C>A	c.(1270-1272)aCt>aAt	p.T424N	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	424					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						AATGTGAGGAGTTCGGCTCCC	0.448000													15	53					1.15088e-07	1.19198e-07	1	1	0
PLEC	5339	broad.mit.edu	37	8	144992883	144992883	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr8:144992883C>G	ENST00000322810.4	-	32	11686	c.11517G>C	c.(11515-11517)caG>caC	p.Q3839H	PLEC_ENST00000398774.2_Missense_Mutation_p.Q3670H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q3680H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q3702H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q3702H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q3706H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q3725H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q3729H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q3688H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3839	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCTCAGTGTCTGCCTGGAAC	0.662000													3	43					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5461801	5461801	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:5461801C>T	ENST00000345221.3	-	4	2769	c.2215G>A	c.(2215-2217)Gaa>Aaa	p.E739K	NLRP1_ENST00000262467.5_Missense_Mutation_p.E739K|NLRP1_ENST00000577119.1_Missense_Mutation_p.E739K|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.E739K|NLRP1_ENST00000572272.1_Missense_Mutation_p.E739K|NLRP1_ENST00000354411.3_Missense_Mutation_p.E739K	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	739					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.E739K(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCCATTTCTTCGAAATGGGCC	0.512000													21	93					0	0	1	0	0
XCL1	6375	broad.mit.edu	37	1	168545890	168545890	+	Silent	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:168545890C>T	ENST00000367818.3	+	1	180	c.15C>T	c.(13-15)atC>atT	p.I5I		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	5					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					GACTTCTCATCCTGGCCCTCC	0.537000													11	81					0	0	1	0	0
SPIRE1	56907	broad.mit.edu	37	18	12452292	12452292	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:12452292G>A	ENST00000409402.4	-	16	2241	c.1974C>T	c.(1972-1974)ccC>ccT	p.P658P	SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Silent_p.P644P|SPIRE1_ENST00000309836.5_Silent_p.P447P|SPIRE1_ENST00000453447.2_Silent_p.P524P	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	658						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GGGCAGTGGAGGGTTTTTCTG	0.512000													9	44					0	0	1	0	0
CCT4	10575	broad.mit.edu	37	2	62096646	62096646	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:62096646G>A	ENST00000394440.3	-	13	1830	c.1534C>T	c.(1534-1536)Ctg>Ttg	p.L512L	CCT4_ENST00000544185.1_Silent_p.L362L|CCT4_ENST00000544079.1_Silent_p.L482L|CCT4_ENST00000538252.1_Silent_p.L456L|CCT4_ENST00000461540.2_5'UTR|AC107081.5_ENST00000425779.1_RNA	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	512					'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)			GATACCAACAGAGGCTGGACA	0.418000													11	60					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81971422	81971422	+	Silent	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr16:81971422C>T	ENST00000359376.3	+	28	3326	c.3112C>T	c.(3112-3114)Ctg>Ttg	p.L1038L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1038	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGGCTACGTTCTGCAGCCTGA	0.522000													19	73					0	0	1	0	0
EXTL1	2134	broad.mit.edu	37	1	26355755	26355755	+	Missense_Mutation	SNP	C	C	T	rs147835535		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:26355755C>T	ENST00000374280.3	+	2	1718	c.851C>T	c.(850-852)tCg>tTg	p.S284L	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	284					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	p.S284L(1)		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)		GAGGCTGCCTCGCGCTTCCTC	0.632000													16	83					0	0	1	0	0
STX12	23673	broad.mit.edu	37	1	28148834	28148834	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:28148834G>A	ENST00000373943.4	+	9	950	c.825G>A	c.(823-825)acG>acA	p.T275T		NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	275					cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		TTTATAAAACGAAGTGATTGC	0.418000													10	93					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166929997	166929997	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:166929997G>A	ENST00000423058.2	-	1	152	c.135C>T	c.(133-135)gaC>gaT	p.D45D	SCN1A_ENST00000409050.1_Silent_p.D45D|SCN1A_ENST00000303395.4_Silent_p.D45D|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.D45D	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	45						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D45D(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGCCATTTTCGTCGTCATCTT	0.448000													29	158					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81636335	81636335	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:81636335G>C	ENST00000558726.1	-	14	1708	c.1573C>G	c.(1573-1575)Ctg>Gtg	p.L525V	TMC3_ENST00000359440.5_Missense_Mutation_p.L524V|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	524						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TCTATGAGCAGAATGCTCGCC	0.512000													9	35					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172546684	172546684	+	Silent	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:172546684C>T	ENST00000263688.3	+	12	1488	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F	SUCO_ENST00000367723.3_Intron	NM_014283.3	NP_055098.1			SUN domain containing ossification factor																		TTCAGATGTTCATCAAGTACA	0.303000													4	35					0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55804493	55804493	+	Splice_Site	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:55804493C>T	ENST00000272313.5	-	10	1796		c.e10-1		SMEK2_ENST00000345102.5_Splice_Site|SMEK2_ENST00000407823.3_Splice_Site	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)							microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACtatattatctaataaaaaa	0.234000													5	14					0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21892035	21892035	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:21892035G>A	ENST00000319481.3	-	13	1211	c.1005C>T	c.(1003-1005)taC>taT	p.Y335Y		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	335					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					AGTGAGTGCTGTAAGCAGAAT	0.393000													32	110					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													4	54					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94674875	94674875	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr14:94674875C>T	ENST00000304338.3	+	3	420	c.266C>T	c.(265-267)aCg>aTg	p.T89M	PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Missense_Mutation_p.T89M	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	89						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.T89M(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCCACTGAGACGCTTCGGAGA	0.388000													9	25					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1028778	1028778	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:1028778T>A	ENST00000421673.2	-	13	1509	c.1459A>T	c.(1459-1461)Atc>Ttc	p.I487F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	487	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGACCGTGATGTTGCCTGCA	0.672000													9	54					0	0	1	0	0
LETM1	3954	broad.mit.edu	37	4	1823941	1823941	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr4:1823941C>G	ENST00000302787.2	-	10	1871	c.1575G>C	c.(1573-1575)ttG>ttC	p.L525F		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	525					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	p.L525L(1)		breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CAGTGTCCTTCAAGGTCTCTG	0.602000													16	43					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69728363	69728363	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:69728363G>T	ENST00000370598.1	+	13	2900	c.2079G>T	c.(2077-2079)caG>caT	p.Q693H		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	693					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGACTTTCAGAATTCATACT	0.323000													11	81					1.08611e-07	1.13649e-07	1	1	0
DIO2	1734	broad.mit.edu	37	14	80669361	80669361	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr14:80669361G>A	ENST00000557010.1	-	4	878	c.493C>T	c.(493-495)Cat>Tat	p.H165Y	DIO2_ENST00000555750.1_Missense_Mutation_p.H201Y|DIO2_ENST00000557125.1_Silent_p.L39L|DIO2_ENST00000438257.4_Missense_Mutation_p.H165Y|DIO2_ENST00000422005.3_3'UTR	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	165					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TCTGATGGATGAGCCTCATCA	0.552000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	43					0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42988769	42988769	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:42988769G>A	ENST00000253408.5	-	6	1027	c.962C>T	c.(961-963)gCg>gTg	p.A321V	GFAP_ENST00000435360.2_Missense_Mutation_p.A321V|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.A321V	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	321	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				ATAACTGGCCGCCTCCCGCAC	0.682000													25	52					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2900000	2900000	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr4:2900000G>A	ENST00000355842.3	+	8	1694	c.831G>A	c.(829-831)ctG>ctA	p.L277L	ADD1_ENST00000264758.7_Silent_p.L277L|ADD1_ENST00000513328.2_Silent_p.L277L|ADD1_ENST00000398123.2_Silent_p.L277L|ADD1_ENST00000398129.1_Silent_p.L277L|ADD1_ENST00000503455.2_Silent_p.L277L|ADD1_ENST00000446856.1_Silent_p.L277L|ADD1_ENST00000398125.1_Silent_p.L277L			P35611	ADDA_HUMAN	adducin 1 (alpha)	277					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATGGCATTCTGGTTGATGAAG	0.438000													19	68					0	0	1	0	0
DPH1	1801	broad.mit.edu	37	17	1936876	1936876	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:1936876C>T	ENST00000263083.6	+	2	199	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	DPH1_ENST00000570477.1_5'UTR	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	52					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						GGCAGCAATCCGGGTCCTGCC	0.582000													23	94					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66700187	66700187	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr12:66700187C>A	ENST00000247815.4	+	3	729	c.670C>A	c.(670-672)Ctt>Att	p.L224I		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	224					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)		CCTTCCAGTTCTTCTGCCTCG	0.358000													11	65					7.03913e-09	7.40385e-09	1	1	0
CPB2	1361	broad.mit.edu	37	13	46641511	46641511	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr13:46641511G>A	ENST00000181383.4	-	7	649	c.633C>T	c.(631-633)ctC>ctT	p.L211L	CPB2_ENST00000439329.3_Intron|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	211					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CAAGCCTCAGGAGATTGGTAT	0.343000													9	46					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31181273	31181273	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:31181273G>A	ENST00000349752.5	-	4	1095	c.456C>T	c.(454-456)ttC>ttT	p.F152F	GALNT14_ENST00000356174.3_Silent_p.F119F|GALNT14_ENST00000324589.5_Silent_p.F157F|GALNT14_ENST00000406653.1_Silent_p.F132F|GALNT14_ENST00000420311.2_Silent_p.F117F	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	152	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGTCATTGCTGAAGTCATCCA	0.458000													16	45					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39643396	39643396	+	Silent	SNP	G	G	T	rs141243083		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:39643396G>T	ENST00000393986.2	-	7	1076	c.864C>A	c.(862-864)gcC>gcA	p.A288A	KRT36_ENST00000328119.6_Silent_p.A338A			O76013	KRT36_HUMAN	keratin 36	338	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CCTCGGTTTCGGCCAGGGTGG	0.622000													17	82					5.03518e-11	5.32366e-11	1	1	0
PARP8	79668	broad.mit.edu	37	5	50090843	50090843	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr5:50090843T>G	ENST00000281631.5	+	12	1178	c.1020T>G	c.(1018-1020)ttT>ttG	p.F340L	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.F340L|PARP8_ENST00000514342.2_Missense_Mutation_p.F93L|PARP8_ENST00000505554.1_Missense_Mutation_p.F319L|PARP8_ENST00000505697.2_Missense_Mutation_p.F340L|PARP8_ENST00000514067.2_Missense_Mutation_p.F340L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	340						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ACAGGACCTTTGGCCGCTCCT	0.522000													3	103					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73254098	73254098	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:73254098C>T	ENST00000377110.2	-	11	1702	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K	TRPM3_ENST00000396285.1_Missense_Mutation_p.E334K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E334K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E359K|TRPM3_ENST00000408909.2_Missense_Mutation_p.E334K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E514K|TRPM3_ENST00000377111.2_Missense_Mutation_p.E487K|TRPM3_ENST00000377106.1_Missense_Mutation_p.E359K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E359K|TRPM3_ENST00000360823.2_Missense_Mutation_p.E359K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E489K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E334K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	512						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATGGCTTGCTCCAGAGATCCC	0.453000													23	72					0	0	1	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74196619	74196619	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr14:74196619C>T	ENST00000286523.5	-	4	2601	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.E607K	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		ATGAGGGGCTCGGGCCTGGGC	0.612000													15	45					0	0	1	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													6	15					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135764979	135764979	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:135764979A>C	ENST00000250617.6	-	13	2622	c.1417T>G	c.(1417-1419)Tta>Gta	p.L473V	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.L319V|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.L319V|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.L346V	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	473	PH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTTGAAAATAACATAAGGTAC	0.373000													20	78					0	0	1	0	0
RRAGC	64121	broad.mit.edu	37	1	39305258	39305258	+	Silent	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:39305258C>T	ENST00000373001.3	-	7	1343	c.1167G>A	c.(1165-1167)ctG>ctA	p.L389L	RRAGC_ENST00000474456.1_5'UTR	NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	389					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				CATTGTGTGTCAGCGCTTTCA	0.542000													7	55					0	0	1	0	0
LOC101929735	101929735	broad.mit.edu	37	14	22935399	22935399	+	RNA	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr14:22935399G>C	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA																							GAACAGAAATGAGACCCCTAT	0.423000													11	33					0	0	1	0	0
TUBBP1	92755	broad.mit.edu	37	8	30210627	30210627	+	RNA	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr8:30210627C>T	ENST00000518096.1	+	0	1239																											TCACCTTCATCGGCAGTAGCA	0.552000													3	102					0	0	1	0	0
ACVR2B	93	broad.mit.edu	37	3	38520710	38520710	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr3:38520710G>A	ENST00000352511.3	+	6	1230	c.758G>A	c.(757-759)cGa>cAa	p.R253Q		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	253	Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GCCGAGAAGCGAGGCTCCAAC	0.562000													46	156					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42129621	42129621	+	Translation_Start_Site	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr8:42129621G>A	ENST00000520810.1	+	2	189	c.3G>A	c.(1-3)atG>atA	p.M1I	IKBKB_ENST00000379708.3_5'UTR|IKBKB_ENST00000522147.1_Start_Codon_SNP_p.M1I|IKBKB_ENST00000520835.1_Intron|IKBKB_ENST00000519735.1_Start_Codon_SNP_p.M1I|IKBKB_ENST00000518983.1_Start_Codon_SNP_p.M1I|IKBKB_ENST00000416505.2_5'UTR	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	1					anti-apoptosis|innate immune response|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 transcription, DNA-dependent|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	ACATCAGTATGAGCTGGTCAC	0.473000											OREG0018746	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	64					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134074047	134074047	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:134074047T>C	ENST00000534548.2	-	10	1173	c.1109A>G	c.(1108-1110)tAt>tGt	p.Y370C		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	370					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AAAAGTACGATACTCTGATTT	0.428000													20	28					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195395399	195395399	+	RNA	SNP	G	G	A	rs62287990	by1000genomes	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr3:195395399G>A	ENST00000445430.1	+	0	806																											GGCTACGGGCGCACCTACTTG	0.607000													3	46					0	0	1	0	0
C9orf40	55071	broad.mit.edu	37	9	77563059	77563059	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:77563059C>T	ENST00000376854.5	-	2	764	c.490G>A	c.(490-492)Gat>Aat	p.D164N		NM_017998.2	NP_060468.2	Q8IXQ3	CI040_HUMAN	chromosome 9 open reading frame 40	164										lung(2)|stomach(1)	3						TCTGCCAGATCAATAGGAGGC	0.423000													22	66					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16258246	16258246	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:16258246G>A	ENST00000375759.3	+	11	5715	c.5511G>A	c.(5509-5511)gaG>gaA	p.E1837E		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1837					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|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;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTATCGTGGAGAAGCCCGTCA	0.483000													5	63					0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52822220	52822220	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr12:52822220C>T	ENST00000252245.5	-	7	1422	c.1202G>A	c.(1201-1203)cGg>cAg	p.R401Q	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	401	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CAGTTCTCCCCGCTGCTCTGC	0.597000													9	36					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94910964	94910964	+	Silent	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:94910964C>T	ENST00000357742.4	+	10	1432	c.1432C>T	c.(1432-1434)Ctg>Ttg	p.L478L	MCTP2_ENST00000557742.1_Silent_p.L66L|MCTP2_ENST00000331706.4_Silent_p.L66L|MCTP2_ENST00000451018.3_Silent_p.L478L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	478					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CGTCTCTGATCTGTGTGTCTG	0.547000													17	51					0	0	1	0	0
PRCC	5546	broad.mit.edu	37	1	156756563	156756563	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:156756563C>T	ENST00000271526.4	+	3	952	c.680C>T	c.(679-681)tCc>tTc	p.S227F	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Missense_Mutation_p.S227F	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	227					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCAAGACTTCCTCTCTTGCC	0.582000			T	TFE3	papillary renal								21	79					0	0	1	0	0
LCMT1	51451	broad.mit.edu	37	16	25182072	25182072	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr16:25182072C>T	ENST00000399069.3	+	9	985	c.830C>T	c.(829-831)tCg>tTg	p.S277L	LCMT1_ENST00000380966.4_Missense_Mutation_p.S222L|LCMT1_ENST00000572869.1_3'UTR	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	277							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GAAACAGCATCGGCCGTCGAC	0.493000													19	78					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62289614	62289614	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:62289614G>C	ENST00000378024.4	-	5	12549	c.12275C>G	c.(12274-12276)tCa>tGa	p.S4092*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4092					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTGGGTCCTGAGACATCAAT	0.458000													52	195					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91772193	91772193	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr14:91772193G>A	ENST00000389857.6	-	19	3359	c.3273C>T	c.(3271-3273)agC>agT	p.S1091S		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1091					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGATCTGGCTGCTGAAGGTCA	0.587000													16	25					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	534289	534289	+	Missense_Mutation	SNP	C	C	T	rs104894229		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:534289C>T	ENST00000417302.1	-	2	221	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.G12S|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCCACACCGCCGGCGCCCACC	0.647000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			45	36					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124353105	124353105	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:124353105C>T	ENST00000368909.3	+	21	2627	c.2521C>T	c.(2521-2523)Ccc>Tcc	p.P841S	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.P831S|DMBT1_ENST00000368955.3_Missense_Mutation_p.P831S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.P841S	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	841					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCGGCCGACACCCAGTCCAGG	0.517000													12	408					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644929	169644929	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr3:169644929G>A	ENST00000428432.2	+	6	1268	c.879G>A	c.(877-879)aaG>aaA	p.K293K	SAMD7_ENST00000335556.3_Silent_p.K293K	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	293										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)			GTGATGAAAAGAATGGGGTTT	0.547000													13	59					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767823	105767823	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:105767823G>T	ENST00000374798.3	+	5	980	c.910G>T	c.(910-912)Gcc>Tcc	p.A304S	CYLC2_ENST00000487798.1_Missense_Mutation_p.A304S	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	304	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.A304T(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				caagaaagttgccaagaaaga	0.388000													3	18					0.115264	0.115264	1	1	0
LRRC45	201255	broad.mit.edu	37	17	79982581	79982581	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:79982581C>T	ENST00000306688.3	+	3	637	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	LRRC45_ENST00000583383.1_3'UTR	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	99						centrosome		p.R99W(1)		lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CAACAACCTTCGGGCTGCAGG	0.622000													11	52					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109965828	109965828	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:109965828C>G	ENST00000424296.2	-	9	899	c.823G>C	c.(823-825)Gag>Cag	p.E275Q	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Missense_Mutation_p.E275Q|AK9_ENST00000368948.2_Missense_Mutation_p.E275Q	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		ATAAAGAGCTCCTCTGCTGGT	0.348000													12	87					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140301871	140301871	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr7:140301871C>G	ENST00000275884.6	-	2	744	c.327G>C	c.(325-327)gaG>gaC	p.E109D	DENND2A_ENST00000492720.1_Missense_Mutation_p.E109D|DENND2A_ENST00000496613.1_Missense_Mutation_p.E109D|DENND2A_ENST00000537639.1_Missense_Mutation_p.E109D			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	109										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CTTTATTCCTCTCCTTCTCTG	0.587000													58	177					0	0	1	0	0
RAX	30062	broad.mit.edu	37	18	56939841	56939841	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:56939841G>A	ENST00000334889.3	-	2	481	c.295C>T	c.(295-297)Cga>Tga	p.R99*	RAX_ENST00000256852.7_Intron	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	99					visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		CAGTAGGGTCGAGGGGCTGGG	0.731000													8	27					0	0	1	0	0
LRRC37BP1	147172	broad.mit.edu	37	17	28961033	28961033	+	RNA	SNP	T	T	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:28961033T>G	ENST00000417404.1	+	0	1291				LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA																							AGTTCCAGGATATGACTATAA	0.264000													3	29					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552368	1552368	+	Missense_Mutation	SNP	C	C	G	rs144175019	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:1552368C>G	ENST00000381605.4	-	3	813	c.749G>C	c.(748-750)cGa>cCa	p.R250P	SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	250					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TCTTCTACCTCGGATGGCCTC	0.597000													19	60					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238249328	238249328	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:238249328G>A	ENST00000295550.4	-	38	8683	c.8231C>T	c.(8230-8232)aCg>aTg	p.T2744M	COL6A3_ENST00000472056.1_Missense_Mutation_p.T2137M|COL6A3_ENST00000347401.3_Missense_Mutation_p.T2543M|COL6A3_ENST00000346358.4_Missense_Mutation_p.T2544M|COL6A3_ENST00000353578.4_Missense_Mutation_p.T2538M|COL6A3_ENST00000409809.1_Missense_Mutation_p.T2538M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2744	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CACCTCGCCCGTCAGCATCAG	0.567000													21	62					0	0	1	0	0
C20orf24	55969	broad.mit.edu	37	20	35240503	35240503	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:35240503G>C	ENST00000342422.3	+	3	439	c.309G>C	c.(307-309)ttG>ttC	p.L103F	C20orf24_ENST00000344795.3_3'UTR|C20orf24_ENST00000373852.5_3'UTR|TGIF2-C20orf24_ENST00000558530.1_3'UTR	NM_199483.2	NP_955777.1			chromosome 20 open reading frame 24											breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGACCCTCTTGATTACAGCAC	0.507000													78	307					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153694586	153694586	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:153694586G>A	ENST00000369682.3	+	15	2947	c.2772G>A	c.(2770-2772)acG>acA	p.T924T		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	924	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTTCCGCACGCAGTCGGAGC	0.682000													7	148					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9466643	9466643	+	Splice_Site	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:9466643G>C	ENST00000379719.3	+	25	3161		c.e25-1			NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7						interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTGTTTTCTAGAATCCAAAAT	0.373000													19	50					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													5	54					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9304252	9304252	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr12:9304252G>C	ENST00000261336.2	-	33	4257	c.4229C>G	c.(4228-4230)tCt>tGt	p.S1410C	PZP_ENST00000381997.2_Missense_Mutation_p.S1196C	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CCGGCTCACAGAGCTAGATCT	0.438000													5	34					0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47091826	47091826	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:47091826C>G	ENST00000261292.4	+	2	515	c.237C>G	c.(235-237)ttC>ttG	p.F79L	LIPG_ENST00000577628.1_Missense_Mutation_p.F115L|LIPG_ENST00000580036.1_Missense_Mutation_p.F79L|LIPG_ENST00000427224.2_Missense_Mutation_p.F79L	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	79					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	p.F79L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ACTGCAGTTTCAACATGACAG	0.507000													20	58					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921116	24921116	+	Silent	SNP	G	G	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:24921116G>T	ENST00000329468.2	+	1	576	c.102G>T	c.(100-102)ccG>ccT	p.P34P		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ACGCCTCCCCGCCCGGTCGGG	0.716000													3	20					6.4e-05	6.46368e-05	1	1	0
SZT2	23334	broad.mit.edu	37	1	43892993	43892993	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:43892993C>G	ENST00000562955.1	+	24	3304	c.3304C>G	c.(3304-3306)Caa>Gaa	p.Q1102E	SZT2_ENST00000372442.1_Missense_Mutation_p.Q260E	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1159						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGGACCCCCTCAAGAGGAGAC	0.567000													12	70					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47087204	47087204	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:47087204C>G	ENST00000374312.1	+	3	840	c.421C>G	c.(421-423)Cag>Gag	p.Q141E	NPY4R_ENST00000395716.1_Missense_Mutation_p.Q141E	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		GGAGAGGCATCAGCTCATCAT	0.582000													20	257					0	0	1	0	0
NARFL	64428	broad.mit.edu	37	16	786324	786324	+	Silent	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr16:786324C>G	ENST00000540986.1	-	3	1510	c.75G>C	c.(73-75)cgG>cgC	p.R25R	NARFL_ENST00000251588.2_Silent_p.R127R|NARFL_ENST00000568545.1_Silent_p.R25R|NARFL_ENST00000301694.5_Intron			Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	127					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				TCAGCTGAAACCGTGCAGCCA	0.502000													26	71					0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71425945	71425945	+	Missense_Mutation	SNP	C	C	T	rs146534560	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:71425945C>T	ENST00000373657.1	-	3	2905	c.2303G>A	c.(2302-2304)cGt>cAt	p.R768H	ERCC6L_ENST00000334463.3_Missense_Mutation_p.R891H|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	891					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ATTGCAATGACGTAAAATCTC	0.348000													12	31					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906452	5906452	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:5906452G>C	ENST00000316987.2	+	1	952	c.930G>C	c.(928-930)caG>caC	p.Q310H		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q310H(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTTGTACAGAAAGAATAAT	0.368000													24	36					0	0	1	0	0
ACOT8	10005	broad.mit.edu	37	20	44472992	44472992	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:44472992C>T	ENST00000217455.4	-	4	646	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	186					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				GGCTTGATCTCAATGGGGACC	0.552000													14	48					0	0	1	0	0
CTD-2192J16.20	0	broad.mit.edu	37	19	12691749	12691749	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:12691749G>A	ENST00000593682.1	-	1	40	c.41C>T	c.(40-42)aCg>aTg	p.T14M	ZNF490_ENST00000311437.6_Silent_p.H380H														p.H380H(1)									GAGTTCTTTCGTGCACTTCAC	0.413000													23	63					0	0	1	0	0
MAP2K7	5609	broad.mit.edu	37	19	7976017	7976017	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:7976017G>A	ENST00000545011.1	+	7	1019	c.954G>A	c.(952-954)cgG>cgA	p.R318R	MAP2K7_ENST00000397983.3_Silent_p.R292R|MAP2K7_ENST00000397981.3_Silent_p.R276R|MAP2K7_ENST00000397979.3_Silent_p.R276R			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	276	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|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|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	CCAAGACGCGGAGCGCCGGCT	0.692000													5	32					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12905259	12905259	+	Silent	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:12905259G>C	ENST00000380659.3	+	3	1771	c.1632G>C	c.(1630-1632)ctG>ctC	p.L544L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	544					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TAGCAGAGCTGAGATATTTGG	0.403000													82	323					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25464907	25464907	+	Silent	SNP	G	G	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:25464907G>T	ENST00000376351.3	+	1	917	c.558G>T	c.(556-558)ccG>ccT	p.P186P	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	186						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						TGTCCGCACCGGCCCCACAGG	0.672000													13	30					5.50884e-06	5.61957e-06	1	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													4	96					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8460435	8460435	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:8460435A>G	ENST00000381196.4	-	30	4394	c.3851T>C	c.(3850-3852)gTc>gCc	p.V1284A	PTPRD_ENST00000540109.1_Missense_Mutation_p.V1284A|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1271A|PTPRD_ENST00000537002.1_Missense_Mutation_p.V870A|PTPRD_ENST00000397606.3_Missense_Mutation_p.V863A|PTPRD_ENST00000486161.1_Missense_Mutation_p.V873A|PTPRD_ENST00000397617.3_Missense_Mutation_p.V863A|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1262A|PTPRD_ENST00000397611.3_Missense_Mutation_p.V870A|PTPRD_ENST00000355233.5_Missense_Mutation_p.V873A|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1284A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1284					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)		AATAGCAATGACAATGCAGAT	0.418000										TSP Lung(15;0.13)			11	167					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23884890	23884890	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr14:23884890G>A	ENST00000355349.3	-	35	5267	c.5105C>T	c.(5104-5106)gCg>gTg	p.A1702V	CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1702					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCCTGCTCCGCCAGCTTCCG	0.637000													20	69					0	0	1	0	0
SPIRE1	56907	broad.mit.edu	37	18	12452302	12452302	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:12452302G>A	ENST00000409402.4	-	16	2231	c.1964C>T	c.(1963-1965)tCa>tTa	p.S655L	SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Missense_Mutation_p.S641L|SPIRE1_ENST00000309836.5_Missense_Mutation_p.S444L|SPIRE1_ENST00000453447.2_Missense_Mutation_p.S521L	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	655						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GGGTTTTTCTGACCTCATACT	0.502000													9	43					0	0	1	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69423835	69423835	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:69423835G>A	ENST00000357336.3	+	15	2412	c.2131G>A	c.(2131-2133)Gag>Aag	p.E711K		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	711										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GGAAATGAAAGAGATGTATCA	0.398000													76	56					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639753	179639753	+	Missense_Mutation	SNP	G	G	A	rs56851316		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:179639753G>A	ENST00000589042.1	-	29	6909	c.6685C>T	c.(6685-6687)Cac>Tac	p.H2229Y	TTN_ENST00000359218.5_Missense_Mutation_p.H2183Y|TTN_ENST00000591111.1_Missense_Mutation_p.H2229Y|TTN_ENST00000360870.5_Missense_Mutation_p.H2229Y|TTN_ENST00000460472.2_Missense_Mutation_p.H2183Y|TTN_ENST00000342175.6_Missense_Mutation_p.H2183Y|TTN_ENST00000342992.6_Missense_Mutation_p.H2229Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1966	Ig-like 11.						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)			GAGAGGAAGTGAACCTTTCTG	0.388000													7	77					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	33038269	33038269	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:33038269G>T	ENST00000357033.4	-	2	286	c.80C>A	c.(79-81)gCa>gAa	p.A27E	DMD_ENST00000288447.4_Missense_Mutation_p.A19E|DMD_ENST00000378677.2_Missense_Mutation_p.A23E	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	27	Actin-binding.|CH 1.				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)				AGAAAATTGTGCATTTACCCA	0.259000													6	22					2.0095e-06	2.06024e-06	1	1	0
INPPL1	3636	broad.mit.edu	37	11	71949125	71949125	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:71949125G>A	ENST00000541756.1	+	27	3796	c.2866G>A	c.(2866-2868)Gag>Aag	p.E956K	INPPL1_ENST00000538751.1_Missense_Mutation_p.E956K|INPPL1_ENST00000298229.2_Missense_Mutation_p.E1198K			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1198	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CGGGCTGGGCGAGGCAGGCAT	0.662000											OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	12					0	0	1	0	0
CLK3	1198	broad.mit.edu	37	15	74911679	74911679	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:74911679C>T	ENST00000395066.3	+	2	1047	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	CLK3_ENST00000348245.3_Missense_Mutation_p.R48W|CLK3_ENST00000345005.4_Missense_Mutation_p.R48W|CLK3_ENST00000352989.5_Missense_Mutation_p.R48W	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	196	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						ACGAAGATCTCGGTCCAGAAG	0.577000													31	88					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118635300	118635300	+	Missense_Mutation	SNP	G	G	A	rs138680595	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:118635300G>A	ENST00000360388.4	+	8	1313	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	371					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		AAGCAGTTCCGCAATCCTTCA	0.557000													23	147					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6175070	6175070	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:6175070G>A	ENST00000264870.3	-	12	1755	c.1490C>T	c.(1489-1491)aCt>aTt	p.T497I		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	497					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CATCAGGGCAGTTTCTAGGGC	0.453000													12	46					0	0	1	0	0
C20orf197	284756	broad.mit.edu	37	20	58645874	58645874	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:58645874G>A	ENST00000313426.1	+	4	598	c.292G>A	c.(292-294)Gct>Act	p.A98T		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	98										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			ggtattaaaggctctgcaaag	0.473000													9	19					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43912090	43912090	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:43912090G>A	ENST00000314537.5	+	13	1433	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	CRHR1_ENST00000577353.1_Missense_Mutation_p.R389H|CRHR1_ENST00000398285.3_Missense_Mutation_p.R432H|CRHR1_ENST00000352855.5_Missense_Mutation_p.R363H|CRHR1_ENST00000339069.5_Missense_Mutation_p.V257M|CRHR1_ENST00000293493.7_Missense_Mutation_p.R228H	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	432					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TCCCCAACCCGTGTCAGCTTT	0.642000													13	62					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42434788	42434788	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:42434788C>T	ENST00000397272.3	-	19	2364	c.2273G>A	c.(2272-2274)cGc>cAc	p.R758H	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.R756H	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	756	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AATGGGGGAGCGGGGGTCCTC	0.632000													18	45					0	0	1	0	0
LOC101927237	101927237	broad.mit.edu	37	4	68311853	68311855	+	RNA	DEL	GAG	GAG	-			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr4:68311853_68311855delGAG	ENST00000502400.1	-	0	34																											TCTCTATGGCGAGGAGGAGGAGG	0.547													3	3	---	---	---	---					
PPP1R18	170954	broad.mit.edu	37	6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)caa>ca	p.QQ102del	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	102	Poly-Gln.					cytoplasm|cytoskeleton	actin binding	p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.650													10	95	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32523362	32523363	+	RNA	INS	-	-	GATA	rs142676080	by1000genomes	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:32523362_32523363insGATA	ENST00000411500.1	-	0	458					NR_001298.1																						AAAGCAATGTGGATAAAGGGAC	0.431													4	9	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150816	65150816	+	RNA	DEL	A	A	-			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr7:65150816delA	ENST00000430126.2	+	0	757																											TTCATCCCTCACCCCCCCCCC	0.463													4	5	---	---	---	---					
OR1J2	26740	broad.mit.edu	37	9	125273990	125273991	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:125273990_125273991delCT	ENST00000335302.5	+	1	910_911	c.910_911delCT	c.(910-912)cfs	p.L304fs		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CCTTGGGAAACTCTTCAGTAGA	0.391													26	90	---	---	---	---					
MYPN	84665	broad.mit.edu	37	10	69921514	69921515	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:69921514_69921515delAG	ENST00000373675.3	+	8	1717_1718	c.1488_1489delAG	c.(1486-1491)aaatfs	p.KD496fs	MYPN_ENST00000354393.2_Intron|MYPN_ENST00000358913.5_Intron|MYPN_ENST00000540630.1_Intron			Q86TC9	MYPN_HUMAN	myopalladin	0	Ig-like 2.|Interaction with CARP.					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						AGCCAGGTAAAGATGATTTCAA	0.287													7	57	---	---	---	---					
SENP1	29843	broad.mit.edu	37	12	48458895	48458896	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr12:48458895_48458896insT	ENST00000004980.5	-	12	1705_1706	c.1227_1228insA	c.(1225-1230)aagtcafs	p.S410fs	SENP1_ENST00000448372.1_Frame_Shift_Ins_p.S410fs|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000551330.1_Frame_Shift_Ins_p.S410fs|SENP1_ENST00000549595.1_Frame_Shift_Ins_p.S410fs|SENP1_ENST00000549518.1_Frame_Shift_Ins_p.S410fs			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	410					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	p.G410fs*3(1)|p.G410fs*4(1)		large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AATTTATGACCTTTTTTTTGTG	0.337													13	29	---	---	---	---					
RRN3P2	653390	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr16:29113498delT	ENST00000564580.1	+	0	1360																											AGGAGGTGGAttttttttttc	0.542													3	6	---	---	---	---					
