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
POTEF	728378	broad.mit.edu	37	2	130832651	130832651	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:130832651G>A	ENST00000357462.5	-	15	2487	c.2394C>T	c.(2392-2394)ccC>ccT	p.P798P	POTEF_ENST00000409914.2_Silent_p.P798P			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	798	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GGTGCTCCTCGGGAGCCACAC	0.577000													4	136					0	0	0.009096	0	0
ITPR2	3709	broad.mit.edu	37	12	26592150	26592150	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:26592150C>T	ENST00000381340.3	-	47	6969	c.6553G>A	c.(6553-6555)Gaa>Aaa	p.E2185K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2185					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCATCCCTTTCAGTTGTATTG	0.403000													13	88					0	0	0.020292	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557000		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)			10	29					0	0	0.006214	0	0
MIR758	768212	broad.mit.edu	37	14	101492432	101492432	+	RNA	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:101492432C>T	ENST00000390227.1	+	0	76					NR_030406.1																						CACTAACCCTCAGTATCTAAT	0.507000													23	61					0	0	0.016522	0	0
CUZD1	50624	broad.mit.edu	37	10	124608956	124608956	+	Splice_Site	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:124608956C>G	ENST00000368904.1	-	2	370		c.e2-1		FAM24B_ENST00000368896.1_Splice_Site|FAM24B_ENST00000462859.1_Splice_Site|FAM24B_ENST00000368898.3_Splice_Site|CUZD1_ENST00000545804.1_Intron			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1						cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CTTTGCAGCTCTTGAGAAAAG	0.483000													13	59					0	0	0.020292	0	0
FLII	2314	broad.mit.edu	37	17	18155348	18155348	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:18155348C>A	ENST00000327031.4	-	11	1436	c.1211G>T	c.(1210-1212)gGt>gTt	p.G404V	FLII_ENST00000579294.1_Missense_Mutation_p.G393V|FLII_ENST00000379450.4_Missense_Mutation_p.G319V|FLII_ENST00000578558.1_Missense_Mutation_p.G404V|FLII_ENST00000545457.2_Missense_Mutation_p.G350V	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	404	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					AGGAGAGGCACCCGCTAGCCG	0.637000													11	57					5.03518e-11	5.46677e-11	0.007413	1	0
ULK1	8408	broad.mit.edu	37	12	132404541	132404541	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:132404541G>A	ENST00000321867.4	+	26	3172	c.2821G>A	c.(2821-2823)Gag>Aag	p.E941K	ULK1_ENST00000540647.1_Missense_Mutation_p.E186K	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	941					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CAGGCTGAATGAGCTGTACAA	0.642000													11	44					0	0	0.010729	0	0
JAG1	182	broad.mit.edu	37	20	10620404	10620404	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:10620404C>T	ENST00000254958.5	-	26	3914	c.3399G>A	c.(3397-3399)acG>acA	p.T1133T	JAG1_ENST00000423891.2_Silent_p.T974T	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1133					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGATGGGGACCGTGTTGGCCC	0.483000									Alagille Syndrome				29	50					0	0	0.005443	0	0
ADCK4	79934	broad.mit.edu	37	19	41209472	41209472	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:41209472A>C	ENST00000324464.3	-	9	1074	c.773T>G	c.(772-774)cTc>cGc	p.L258R	ADCK4_ENST00000450541.1_Missense_Mutation_p.L217R|ADCK4_ENST00000243583.6_Missense_Mutation_p.L217R	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	258	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCTCATCTTGAGTACCGCCAG	0.622000													9	24					0	0	0.013537	0	0
IQCH	64799	broad.mit.edu	37	15	67664726	67664726	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:67664726C>T	ENST00000335894.4	+	9	1097	c.1031C>T	c.(1030-1032)tCa>tTa	p.S344L	IQCH_ENST00000546225.1_Missense_Mutation_p.S92L|IQCH_ENST00000360277.4_Missense_Mutation_p.S96L|IQCH_ENST00000358767.3_Missense_Mutation_p.S171L	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	344										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GACCTTCTCTCAGTGTTAGAG	0.443000													22	56					0	0	0.004656	0	0
KIF6	221458	broad.mit.edu	37	6	39513400	39513400	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:39513400C>T	ENST00000287152.7	-	11	1340	c.1246G>A	c.(1246-1248)Gcg>Acg	p.A416T	KIF6_ENST00000373216.3_Missense_Mutation_p.A416T|KIF6_ENST00000373215.3_Missense_Mutation_p.A416T|KIF6_ENST00000373213.4_Missense_Mutation_p.A255T|KIF6_ENST00000538893.1_Missense_Mutation_p.A416T	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	416					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CGCATATCCGCGCCAACCTCT	0.368000													33	52					0	0	0.013726	0	0
EIF3I	8668	broad.mit.edu	37	1	32696783	32696783	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:32696783G>A	ENST00000373586.1	+	11	1036	c.964G>A	c.(964-966)Gag>Aag	p.E322K		NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3, subunit I	322						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CTTCGAATTTGAGTTTGAGGC	0.527000													8	35					0	0	0.003080	0	0
SYNE1	23345	broad.mit.edu	37	6	152776622	152776622	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:152776622C>T	ENST00000367255.5	-	24	3432	c.2831G>A	c.(2830-2832)cGg>cAg	p.R944Q	SYNE1_ENST00000413186.2_Missense_Mutation_p.R944Q|SYNE1_ENST00000367253.4_Missense_Mutation_p.R944Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.R944Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.R951Q|SYNE1_ENST00000367248.3_Missense_Mutation_p.R934Q|SYNE1_ENST00000495090.2_Missense_Mutation_p.R511Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1010Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.R951Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	944					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGAGCAATCCGCAGTACCTT	0.507000										HNSCC(10;0.0054)			4	73					0	0	0.009096	0	0
TP53BP1	7158	broad.mit.edu	37	15	43766895	43766895	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:43766895G>A	ENST00000263801.3	-	10	1393	c.1141C>T	c.(1141-1143)Ccc>Tcc	p.P381S	TP53BP1_ENST00000382044.4_Missense_Mutation_p.P386S|TP53BP1_ENST00000450115.2_Missense_Mutation_p.P386S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.P386S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	381					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGCTCTGTGGGACTGCTAGGA	0.413000								Other conserved DNA damage response genes					9	20					0	0	0.008291	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873419	91873419	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:91873419C>T	ENST00000373094.1	+	7	4369	c.3524C>T	c.(3523-3525)cCa>cTa	p.P1175L	PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1165L|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1138L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1157L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1138L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1167L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1175					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGCCACAGCCCACCACTGTCA	0.567000													16	43					0	0	0.006122	0	0
RFC2	5982	broad.mit.edu	37	7	73663387	73663387	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:73663387G>A	ENST00000055077.3	-	4	347	c.287C>T	c.(286-288)cCa>cTa	p.P96L	RFC2_ENST00000352131.3_Missense_Mutation_p.P96L	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	96					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						TTTGAGTGCTGGGCCCAGCAG	0.542000													25	106					0	0	0.006320	0	0
PCSK2	5126	broad.mit.edu	37	20	17462559	17462559	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:17462559G>A	ENST00000262545.2	+	12	2076	c.1761G>A	c.(1759-1761)tgG>tgA	p.W587*	PCSK2_ENST00000536609.1_Nonsense_Mutation_p.W552*|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Nonsense_Mutation_p.W568*	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	587					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGAAGGAGTGGACCCTGATGC	0.622000													4	32					0	0	0.009096	0	0
CNGB1	1258	broad.mit.edu	37	16	57994394	57994394	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:57994394G>A	ENST00000251102.8	-	9	635	c.575C>T	c.(574-576)tCa>tTa	p.S192L	CNGB1_ENST00000311183.4_Missense_Mutation_p.S192L|CNGB1_ENST00000564448.1_Intron	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	192	Pro-rich.			Missing (in Ref. 4; AAC04830).	sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ACCTGGGTCTGAGGCAGCACC	0.647000													3	20					0	0	0.004672	0	0
NEK1	4750	broad.mit.edu	37	4	170400665	170400665	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr4:170400665C>G	ENST00000439128.2	-	22	2584	c.1944G>C	c.(1942-1944)aaG>aaC	p.K648N	NEK1_ENST00000511633.1_Missense_Mutation_p.K632N|NEK1_ENST00000507142.1_Missense_Mutation_p.K676N|NEK1_ENST00000510533.1_Missense_Mutation_p.K604N|NEK1_ENST00000512193.1_Missense_Mutation_p.K579N	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	648					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CATCAGAACTCTTAACTCCTT	0.348000													8	42					0	0	0.004482	0	0
TRIM45	80263	broad.mit.edu	37	1	117661121	117661121	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:117661121C>G	ENST00000256649.4	-	2	1283	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	TRIM45_ENST00000369461.3_Missense_Mutation_p.E196Q|TRIM45_ENST00000369464.3_Missense_Mutation_p.E253Q	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	253						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		AGGGCTTCCTCCAGGGCCTCC	0.567000													10	52					0	0	0.008291	0	0
LDB3	11155	broad.mit.edu	37	10	88441501	88441501	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:88441501G>T	ENST00000429277.2	+	5	775	c.630G>T	c.(628-630)atG>atT	p.M210I	LDB3_ENST00000372056.4_Missense_Mutation_p.M210I|LDB3_ENST00000310944.6_Missense_Mutation_p.M210I|LDB3_ENST00000361373.4_Missense_Mutation_p.M210I|LDB3_ENST00000542786.1_Missense_Mutation_p.M210I|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000352360.5_Intron	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	210						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TGAGGGAGATGGCTCAGATGT	0.632000													4	169					0.00909568	0.0095254	0.009096	1	0
CHRD	8646	broad.mit.edu	37	3	184104641	184104641	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:184104641G>A	ENST00000204604.1	+	17	2451	c.2205G>A	c.(2203-2205)acG>acA	p.T735T	CHRD_ENST00000450923.1_Silent_p.T735T|CHRD_ENST00000545352.1_Silent_p.T277T|CHRD_ENST00000348986.3_Silent_p.T695T|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	735	VWFC 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAGACGAACGGTGATCTGTG	0.657000													12	55					0	0	0.013537	0	0
SMAD3	4088	broad.mit.edu	37	15	67482855	67482855	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:67482855G>A	ENST00000327367.4	+	9	1569	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	SMAD3_ENST00000439724.3_Missense_Mutation_p.R376H|SMAD3_ENST00000540846.2_Missense_Mutation_p.R315H|SMAD3_ENST00000537194.2_Missense_Mutation_p.R225H	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	420	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CCAAGCATCCGCTGTTCCAGT	0.547000													4	14					0	0	0.014758	0	0
RAD21	5885	broad.mit.edu	37	8	117868438	117868438	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:117868438C>T	ENST00000297338.2	-	8	1191	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	302	Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GCAAATGCTTCTTCCTCATTT	0.398000													14	108					0	0	0.020292	0	0
IRF7	3665	broad.mit.edu	37	11	613228	613228	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:613228G>A	ENST00000397566.1	-	7	1663	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	IRF7_ENST00000397574.2_Silent_p.F405F|IRF7_ENST00000397562.3_Silent_p.F112F|IRF7_ENST00000330243.5_Silent_p.F418F|IRF7_ENST00000525445.1_Silent_p.F299F|IRF7_ENST00000397570.1_Silent_p.F376F|IRF7_ENST00000348655.6_Silent_p.F376F	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	405					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCTGAAGTCGAAGATGGGGG	0.652000													5	15					0	0	0.001984	0	0
SPTBN1	6711	broad.mit.edu	37	2	54856219	54856219	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:54856219G>C	ENST00000333896.5	+	13	2294	c.1909G>C	c.(1909-1911)Gag>Cag	p.E637Q	SPTBN1_ENST00000356805.4_Missense_Mutation_p.E650Q	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	650					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GATGGCAGAAGAGGAAGGCTG	0.597000													18	91					0	0	0.006122	0	0
LPHN1	22859	broad.mit.edu	37	19	14288437	14288437	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:14288437C>T	ENST00000340736.6	-	3	487	c.190G>A	c.(190-192)Ggg>Agg	p.G64R	LPHN1_ENST00000361434.3_Missense_Mutation_p.G64R	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	64	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCGTGCGCCCGTAGTTGGCA	0.607000													22	83					0	0	0.021523	0	0
ZNF12	7559	broad.mit.edu	37	7	6731957	6731957	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:6731957G>C	ENST00000405858.1	-	5	1157	c.616C>G	c.(616-618)Ctt>Gtt	p.L206V	ZNF12_ENST00000342651.5_Missense_Mutation_p.L168V|ZNF12_ENST00000404360.1_Missense_Mutation_p.L132V|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	206					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTCTGATAAAGACTTTCTTCA	0.328000													6	26					0	0	0.001984	0	0
WDR35	57539	broad.mit.edu	37	2	20145565	20145565	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:20145565G>A	ENST00000345530.3	-	17	1975	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	WDR35_ENST00000416055.2_Silent_p.F185F|WDR35_ENST00000281405.4_Silent_p.F609F	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	620										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAGTTTCTGAAAACATACA	0.343000													41	142					0	0	0.010771	0	0
ERCC4	2072	broad.mit.edu	37	16	14041533	14041533	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:14041533G>C	ENST00000311895.7	+	11	2089	c.2080G>C	c.(2080-2082)Gag>Cag	p.E694Q		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	694	ERCC4.|Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						ATTTCGAAGTGAGCTTCCATC	0.468000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				7	122					0	0	0.001984	0	0
VARS	7407	broad.mit.edu	37	6	31749637	31749637	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:31749637G>A	ENST00000375663.3	-	19	2774	c.2334C>T	c.(2332-2334)atC>atT	p.I778I	VARS_ENST00000444930.2_3'UTR|VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	778					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCTGGAGACTGATCTTGTCAG	0.622000													7	217					0	0	0.001984	0	0
ZNF91	7644	broad.mit.edu	37	19	23545292	23545292	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:23545292G>A	ENST00000300619.7	-	4	694	c.489C>T	c.(487-489)ttC>ttT	p.F163F	ZNF91_ENST00000397082.2_Silent_p.F131F|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	163						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)				AAAATTTATAGAAGACTTTCA	0.323000													15	38					0	0	0.020292	0	0
CEP250	11190	broad.mit.edu	37	20	34067178	34067178	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:34067178G>A	ENST00000397527.1	+	18	2937	c.2217G>A	c.(2215-2217)gcG>gcA	p.A739A	RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|CEP250_ENST00000342580.4_Silent_p.A739A|RP3-477O4.14_ENST00000416260.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	739	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	p.A739A(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAGAGAAAGCGGCTCTAGAGG	0.612000													5	150					0	0	0.001984	0	0
ZNF333	84449	broad.mit.edu	37	19	14829870	14829870	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:14829870C>T	ENST00000292530.6	+	12	1822	c.1731C>T	c.(1729-1731)ctC>ctT	p.L577L	ZNF333_ENST00000536363.1_Silent_p.L468L|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CCTCATCCCTCAGGAAACATG	0.522000													8	35					0	0	0.003080	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	80					0	0	0.006214	0	0
SEMA4A	64218	broad.mit.edu	37	1	156128225	156128225	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:156128225C>T	ENST00000368285.3	+	5	677	c.410C>T	c.(409-411)aCc>aTc	p.T137I	SEMA4A_ENST00000355014.2_Missense_Mutation_p.T137I|SEMA4A_ENST00000368284.1_Intron|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.T137I|SEMA4A_ENST00000368286.2_Intron	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	137	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TACAATGTCACCCATCTCTAC	0.532000													32	130					0	0	0.013726	0	0
CUEDC2	79004	broad.mit.edu	37	10	104184420	104184420	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:104184420G>A	ENST00000369937.4	-	3	349	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	68						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGATGTGGGCGAAGCCAGGCA	0.597000													13	82					0	0	0.020292	0	0
NBPF10	100132406	broad.mit.edu	37	1	145301725	145301725	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:145301725G>A	ENST00000342960.5	+	7	1029	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	NBPF10_ENST00000369338.1_Missense_Mutation_p.E61K|NBPF10_ENST00000369339.2_Missense_Mutation_p.E61K|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	332										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)		CTCAGAATATGAAGAGTGCAA	0.507000													33	385					0	0	0.013726	0	0
MCU	90550	broad.mit.edu	37	10	74628472	74628472	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:74628472C>T	ENST00000536019.1	+	5	806	c.361C>T	c.(361-363)Cat>Tat	p.H121Y	MCU_ENST00000357157.6_Intron|MCU_ENST00000373053.3_Missense_Mutation_p.H170Y	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	170					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						CCTCTTAAGTCATGAAAATGC	0.383000													14	74					0	0	0.020292	0	0
LCE1D	353134	broad.mit.edu	37	1	152770474	152770474	+	Silent	SNP	T	T	A	rs145076405		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:152770474T>A	ENST00000326233.6	+	2	247	c.204T>A	c.(202-204)ggT>ggA	p.G68G		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	68	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGGGGGTGGTGGCTGCT	0.692000													5	61					0	0	0.004482	0	0
TENM1	10178	broad.mit.edu	37	X	123775674	123775674	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:123775674C>T	ENST00000422452.2	-	11	2107	c.2044G>A	c.(2044-2046)Gat>Aat	p.D682N	TENM1_ENST00000371130.3_Missense_Mutation_p.D682N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CACTTGGGATCACAGCTGCAT	0.473000													24	90					0	0	0.006320	0	0
C2CD5	9847	broad.mit.edu	37	12	22680820	22680820	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:22680820C>T	ENST00000333957.4	-	4	439	c.184G>A	c.(184-186)Gat>Aat	p.D62N	C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000542676.1_Missense_Mutation_p.D62N|C2CD5_ENST00000396028.2_Missense_Mutation_p.D62N|C2CD5_ENST00000446597.1_Missense_Mutation_p.D62N|C2CD5_ENST00000536386.1_Missense_Mutation_p.D62N|C2CD5_ENST00000545552.1_Missense_Mutation_p.D62N	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		AAGTCTTCATCATCCACCTAC	0.313000													6	57					0	0	0.003080	0	0
KLHL1	57626	broad.mit.edu	37	13	70456505	70456505	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr13:70456505C>A	ENST00000377844.4	-	5	1896	c.1137G>T	c.(1135-1137)ttG>ttT	p.L379F	KLHL1_ENST00000545028.1_Missense_Mutation_p.L186F	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	379					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCCACATCATCAATGCATGGA	0.438000													26	56					1.03073e-24	1.14239e-24	0.021523	1	0
SHANK3	85358	broad.mit.edu	37	22	51160628	51160628	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:51160628C>G	ENST00000414786.2	+	21	4552	c.4325C>G	c.(4324-4326)tCt>tGt	p.S1442C	SHANK3_ENST00000262795.3_Missense_Mutation_p.S1472C|SHANK3_ENST00000445220.2_Missense_Mutation_p.S1458C			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1472								p.S1472C(1)|p.S565C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGGCTGGCCTCTGCCGCCGGG	0.711000													4	21					0	0	0.009096	0	0
ABHD17B	51104	broad.mit.edu	37	9	74481894	74481894	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:74481894G>A	ENST00000333421.6	-	4	787	c.676C>T	c.(676-678)Cca>Tca	p.P226S	ABHD17B_ENST00000377041.2_Missense_Mutation_p.P226S	NM_001025780.1	NP_001020951.1			abhydrolase domain containing 17B																		ATTAATACTGGAGAGGTTATC	0.393000													8	39					0	0	0.008291	0	0
PREX2	80243	broad.mit.edu	37	8	68992764	68992764	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:68992764C>T	ENST00000288368.4	+	16	2006	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	577					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TATGAAACATCGACTTATGAA	0.313000													3	53					0	0	0.004672	0	0
POPDC2	64091	broad.mit.edu	37	3	119367224	119367224	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:119367224G>C	ENST00000493094.1	-	3	1351	c.892C>G	c.(892-894)Cag>Gag	p.Q298E	POPDC2_ENST00000468801.1_Missense_Mutation_p.Q298E|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000538678.1_Missense_Mutation_p.Q298E|POPDC2_ENST00000264231.3_Missense_Mutation_p.Q298E			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	298						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		GGTGTGGCCTGAGGAGGGGAC	0.612000													11	94					0	0	0.010729	0	0
HS2ST1	9653	broad.mit.edu	37	1	87538634	87538634	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:87538634C>T	ENST00000370550.5	+	2	505	c.142C>T	c.(142-144)Cac>Tac	p.H48Y	HS2ST1_ENST00000356813.4_Missense_Mutation_p.H22Y|RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.H22Y|HS2ST1_ENST00000370551.4_Missense_Mutation_p.H48Y	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	48						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		TATTGCAAGACACGAAGTCCG	0.408000													9	19					0	0	0.004482	0	0
FBXO10	26267	broad.mit.edu	37	9	37512661	37512661	+	Silent	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:37512661G>C	ENST00000432825.2	-	11	2802	c.2754C>G	c.(2752-2754)ctC>ctG	p.L918L	FBXO10_ENST00000541829.1_Silent_p.L443L|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	918						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		AGGGACGTCTGAGAGAATTTT	0.582000													18	54					0	0	0.004990	0	0
CDK17	5128	broad.mit.edu	37	12	96728558	96728558	+	Silent	SNP	A	A	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:96728558A>G	ENST00000261211.3	-	2	660	c.57T>C	c.(55-57)gaT>gaC	p.D19D	CDK17_ENST00000543119.2_Silent_p.D19D|CDK17_ENST00000542666.1_Intron	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	19							ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						ACAATGATTCATCAATAGTCT	0.368000													7	30					0	0	0.001984	0	0
GPR133	283383	broad.mit.edu	37	12	131475580	131475580	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:131475580C>T	ENST00000261654.5	+	7	1326	c.767C>T	c.(766-768)tCa>tTa	p.S256L	GPR133_ENST00000535015.1_Missense_Mutation_p.S288L|RP11-76C10.5_ENST00000542980.1_lincRNA	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	256					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TTATTGTCTTCAACGCTGCCA	0.468000													6	17					0	0	0.001168	0	0
BARD1	580	broad.mit.edu	37	2	215645669	215645669	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:215645669G>C	ENST00000260947.4	-	4	1063	c.929C>G	c.(928-930)tCt>tGt	p.S310C	BARD1_ENST00000449967.2_Missense_Mutation_p.S166C|BARD1_ENST00000471787.1_5'UTR	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	310					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGATTTCTTAGATGTAAGATA	0.403000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				23	36					0	0	0.021523	0	0
ZNF287	57336	broad.mit.edu	37	17	16456726	16456726	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:16456726C>A	ENST00000395824.1	-	6	1347	c.730G>T	c.(730-732)Gcc>Tcc	p.A244S	ZNF287_ENST00000395825.3_Missense_Mutation_p.A244S			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	237					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CATGCTTGGGCTTTAGTTTCC	0.313000													21	61					3.62473e-10	3.90356e-10	0.012319	1	0
DGKZ	8525	broad.mit.edu	37	11	46393102	46393102	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:46393102C>T	ENST00000454345.1	+	9	1397	c.1272C>T	c.(1270-1272)caC>caT	p.H424H	DGKZ_ENST00000532868.2_Silent_p.H240H|DGKZ_ENST00000318201.8_Silent_p.H213H|DGKZ_ENST00000395574.3_Silent_p.H202H|DGKZ_ENST00000527911.1_Silent_p.H236H|DGKZ_ENST00000528615.1_Silent_p.H14H|DGKZ_ENST00000421244.2_Silent_p.H236H|DGKZ_ENST00000456247.2_Silent_p.H235H|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000343674.6_Silent_p.H252H	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	424					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TGGGGGTCCACGCAGCCGTGG	0.687000													7	20					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179444106	179444106	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:179444106C>T	ENST00000589042.1	-	320	67875	c.67651G>A	c.(67651-67653)Gac>Aac	p.D22551N	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13611N|TTN_ENST00000342992.6_Missense_Mutation_p.D19983N|TTN_ENST00000342175.6_Missense_Mutation_p.D13678N|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D20910N|TTN_ENST00000460472.2_Missense_Mutation_p.D13486N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20910	Fibronectin type-III 63.						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)			CCCTTTAAGTCAAGATCAGGA	0.393000													3	19					0	0	0.004672	0	0
PTK2	5747	broad.mit.edu	37	8	141900645	141900645	+	Silent	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:141900645G>C	ENST00000522684.1	-	3	421	c.192C>G	c.(190-192)gtC>gtG	p.V64V	PTK2_ENST00000340930.3_Silent_p.V64V|PTK2_ENST00000517887.1_Silent_p.V108V|PTK2_ENST00000519881.1_Silent_p.V64V|PTK2_ENST00000395218.2_Silent_p.V64V|PTK2_ENST00000520892.1_Silent_p.V64V|PTK2_ENST00000519419.1_Silent_p.V108V|PTK2_ENST00000535192.1_Silent_p.V64V|PTK2_ENST00000521059.1_Silent_p.V64V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	64	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TACTTACCCTGACATCAGTAG	0.343000													12	69					0	0	0.013537	0	0
RBP3	5949	broad.mit.edu	37	10	48388281	48388281	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:48388281G>A	ENST00000224600.4	-	1	2710	c.2597C>T	c.(2596-2598)aCg>aTg	p.T866M		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	866	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCCAATGACCGTGGCCCGCTG	0.637000													6	34					0	0	0.001168	0	0
PMS2CL	441194	broad.mit.edu	37	7	6776924	6776924	+	RNA	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:6776924G>A	ENST00000486256.1	+	0	1051					NR_002217.1																						GGGGTATGTCGTCTTCTAGCA	0.527000													26	55					0	0	0.021523	0	0
HNMT	3176	broad.mit.edu	37	2	138738917	138738917	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:138738917G>T	ENST00000329366.4	+	3	504	c.322G>T	c.(322-324)Gcc>Tcc	p.A108S	HNMT_ENST00000485653.1_Intron|HNMT_ENST00000410115.1_Intron|HNMT_ENST00000280097.3_Intron	NM_001024075.1	NP_001019246.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	0					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	ATTTGGAGCTGCCCGTTTAGA	0.448000													16	81					3.41278e-10	3.69024e-10	0.004990	1	0
VCAN	1462	broad.mit.edu	37	5	82833070	82833070	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:82833070C>T	ENST00000265077.3	+	8	4813	c.4248C>T	c.(4246-4248)ctC>ctT	p.L1416L	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Silent_p.L429L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1416	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGAAGCATCTCGTTACCACTG	0.468000													17	27					0	0	0.004007	0	0
KCNMA1	3778	broad.mit.edu	37	10	78846273	78846273	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:78846273G>A	ENST00000286627.5	-	11	2365	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L	KCNMA1_ENST00000354353.5_Silent_p.L471L|KCNMA1_ENST00000372443.1_Silent_p.L471L|KCNMA1_ENST00000404857.1_Silent_p.L471L|KCNMA1_ENST00000406533.3_Silent_p.L471L|KCNMA1_ENST00000286628.8_Silent_p.L471L|KCNMA1_ENST00000372440.1_Silent_p.L471L|KCNMA1_ENST00000404771.3_Silent_p.L471L	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	471	RCK N-terminal.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CATGTGGATTGAGGACGGAAC	0.483000													10	49					0	0	0.013537	0	0
SEMA3E	9723	broad.mit.edu	37	7	83029401	83029401	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:83029401C>A	ENST00000307792.3	-	11	1776	c.1309G>T	c.(1309-1311)Gca>Tca	p.A437S	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A377S	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	437	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CGATCTACTGCTATTTGTTTC	0.378000													26	123					1.77063e-15	1.93822e-15	0.005443	1	0
DOPEY1	23033	broad.mit.edu	37	6	83847361	83847361	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:83847361C>T	ENST00000349129.2	+	21	3860	c.3600C>T	c.(3598-3600)tcC>tcT	p.S1200S	DOPEY1_ENST00000369739.3_Silent_p.S1191S|DOPEY1_ENST00000237163.5_Silent_p.S1181S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1200					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAGATGACTCCATTCAACAGA	0.413000													10	30					0	0	0.006214	0	0
NHLRC3	387921	broad.mit.edu	37	13	39618234	39618234	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr13:39618234G>A	ENST00000379600.3	+	5	916	c.594G>A	c.(592-594)atG>atA	p.M198I	NHLRC3_ENST00000470258.1_Start_Codon_SNP_p.M1I|NHLRC3_ENST00000379599.2_Missense_Mutation_p.M131I	NM_001012754.2	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	198						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		TAGATTTCATGATCCTTTGGC	0.373000													44	198					0	0	0.014410	0	0
KLHL18	23276	broad.mit.edu	37	3	47385244	47385244	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:47385244G>A	ENST00000232766.5	+	10	1558	c.1538G>A	c.(1537-1539)cGc>cAc	p.R513H	KLHL18_ENST00000455924.2_Missense_Mutation_p.R401H	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	513										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ATGCACACGCGCAGGAGCCGG	0.607000													4	47					0	0	0.009096	0	0
PHRF1	57661	broad.mit.edu	37	11	606519	606519	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:606519C>G	ENST00000264555.5	+	13	1660	c.1532C>G	c.(1531-1533)tCg>tGg	p.S511W	PHRF1_ENST00000533464.1_Missense_Mutation_p.S507W|PHRF1_ENST00000416188.2_Missense_Mutation_p.S510W|PHRF1_ENST00000413872.2_Missense_Mutation_p.S509W	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	511							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						AGCATCCTGTCGGGCCAGAGC	0.687000													4	19					0	0	0.009096	0	0
HSPA9	3313	broad.mit.edu	37	5	137906699	137906699	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:137906699G>A	ENST00000297185.3	-	4	485	c.360C>T	c.(358-360)acC>acT	p.T120T		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	120					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGAGACGCTTGGTAGCATAAA	0.468000													24	68					0	0	0.018920	0	0
CPNE4	131034	broad.mit.edu	37	3	131300471	131300471	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:131300471C>T	ENST00000512055.1	-	13	2945	c.819G>A	c.(817-819)aaG>aaA	p.K273K	CPNE4_ENST00000511604.1_Silent_p.K273K|CPNE4_ENST00000502818.1_Silent_p.K291K|CPNE4_ENST00000512332.1_Silent_p.K291K|CPNE4_ENST00000429747.1_Silent_p.K273K			Q96A23	CPNE4_HUMAN	copine IV	273										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AATTCTTCTTCTTGGCTTTGT	0.448000													11	81					0	0	0.013537	0	0
RAB5A	5868	broad.mit.edu	37	3	20017653	20017653	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:20017653G>A	ENST00000273047.4	+	4	966	c.430G>A	c.(430-432)Gat>Aat	p.D144N	RAB5A_ENST00000422242.1_Missense_Mutation_p.D130N	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	144					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity			lung(1)|urinary_tract(1)	2						AAGAGCAGTAGATTTCCAGGT	0.343000													5	24					0	0	0.014758	0	0
SAMD13	148418	broad.mit.edu	37	1	84768891	84768891	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:84768891G>C	ENST00000370673.3	+	2	208	c.16G>C	c.(16-18)Gaa>Caa	p.E6Q	SAMD13_ENST00000370669.1_5'UTR|SAMD13_ENST00000370671.3_Missense_Mutation_p.E12Q|SAMD13_ENST00000370670.2_5'UTR|SAMD13_ENST00000370668.3_5'UTR|SAMD13_ENST00000394834.3_5'UTR	NM_001010971.2	NP_001010971.1	Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13	12										lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		ATTAGTTGCTGAAGTAAAGGA	0.388000													12	34					0	0	0.016723	0	0
PSD	5662	broad.mit.edu	37	10	104172143	104172143	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:104172143G>A	ENST00000020673.5	-	6	2269	c.1743C>T	c.(1741-1743)ggC>ggT	p.G581G	PSD_ENST00000406432.1_Silent_p.G581G	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	581	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TTTACTTCTTGCCCAGGTGCC	0.602000													4	43					0	0	0.009096	0	0
OSBP2	23762	broad.mit.edu	37	22	31266528	31266528	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:31266528C>T	ENST00000332585.6	+	3	1070	c.966C>T	c.(964-966)ctC>ctT	p.L322L	OSBP2_ENST00000403222.3_Silent_p.L157L|OSBP2_ENST00000446658.2_Silent_p.L322L|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000382310.3_Silent_p.L322L|OSBP2_ENST00000437268.2_Silent_p.L64L|OSBP2_ENST00000407373.1_Silent_p.L149L	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	322					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GCAATGACCTCATCGCCAAGC	0.587000													6	22					0	0	0.001168	0	0
MYH9	4627	broad.mit.edu	37	22	36702049	36702049	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:36702049C>T	ENST00000216181.5	-	17	2316	c.2086G>A	c.(2086-2088)Ggt>Agt	p.G696S		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	696	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCGAGAACACCGTTGCAGCGC	0.627000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				18	55					0	0	0.008871	0	0
PTCHD1	139411	broad.mit.edu	37	X	23412249	23412249	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:23412249G>A	ENST00000379361.4	+	3	3474	c.2614G>A	c.(2614-2616)Gaa>Aaa	p.E872K		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	872					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TGAGTGTGTAGAAATGGTAGA	0.398000													37	27					0	0	0.021022	0	0
KCNB2	9312	broad.mit.edu	37	8	73849010	73849010	+	Missense_Mutation	SNP	G	G	A	rs140088625		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:73849010G>A	ENST00000523207.1	+	3	2008	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	474					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.E474K(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAAGGCCGGAGAGTCCGCCAA	0.532000													18	110					0	0	0.008871	0	0
HMCN1	83872	broad.mit.edu	37	1	185953402	185953402	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:185953402C>T	ENST00000271588.4	+	19	3121	c.2892C>T	c.(2890-2892)aaC>aaT	p.N964N	HMCN1_ENST00000367492.2_Silent_p.N964N|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	964	Ig-like C2-type 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGCCAGTAACGTTGCTGGGA	0.433000													19	114					0	0	0.010504	0	0
FAM19A5	25817	broad.mit.edu	37	22	49103655	49103655	+	Splice_Site	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:49103655C>T	ENST00000358295.5	+	3	543	c.369_splice	c.e3+1	p.T123_splice	FAM19A5_ENST00000406880.1_Splice_Site_p.T51_splice|FAM19A5_ENST00000402357.1_Splice_Site_p.T130_splice|FAM19A5_ENST00000473898.1_3'UTR	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	130						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		AAGACCACCACGGTATGTGGC	0.657000													55	71					0	0	0.014410	0	0
PEAK1	79834	broad.mit.edu	37	15	77473608	77473608	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:77473608C>T	ENST00000560626.2	-	4	1136	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	PEAK1_ENST00000558305.1_Missense_Mutation_p.E221K|PEAK1_ENST00000312493.4_Missense_Mutation_p.E221K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	221					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										CGGCCCCCTTCATTACTAATC	0.473000													29	137					0	0	0.012213	0	0
RBM26	64062	broad.mit.edu	37	13	79894788	79894788	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr13:79894788C>T	ENST00000438737.2	-	22	3432	c.2992G>A	c.(2992-2994)Gag>Aag	p.E998K	RBM26_ENST00000267229.7_Missense_Mutation_p.E971K|RBM26_ENST00000438724.1_Missense_Mutation_p.E974K			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	998					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TCATTGTCCTCTTCTTCTTCA	0.328000													6	43					0	0	0.001168	0	0
LPIN2	9663	broad.mit.edu	37	18	2931287	2931287	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr18:2931287C>T	ENST00000261596.4	-	9	1661	c.1423G>A	c.(1423-1425)Ggg>Agg	p.G475R		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	475					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTGAGGCCCCCGCAAAGGGAG	0.522000													7	24					0	0	0.003080	0	0
F5	2153	broad.mit.edu	37	1	169484729	169484729	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:169484729C>T	ENST00000367796.3	-	24	6697	c.6496G>A	c.(6496-6498)Gga>Aga	p.G2166R	F5_ENST00000367797.3_Missense_Mutation_p.G2161R|F5_ENST00000495481.1_5'UTR			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2161	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CATTCCACTCCCTGCTCACTG	0.443000													30	148					0	0	0.013726	0	0
NAV1	89796	broad.mit.edu	37	1	201789046	201789046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:201789046C>T	ENST00000367296.4	+	30	6040	c.5620C>T	c.(5620-5622)Cag>Tag	p.Q1874*	NAV1_ENST00000295624.6_Nonsense_Mutation_p.Q1871*|NAV1_ENST00000367300.3_Nonsense_Mutation_p.Q1814*|NAV1_ENST00000367297.4_Nonsense_Mutation_p.Q1866*|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Nonsense_Mutation_p.Q1827*|NAV1_ENST00000367295.1_Nonsense_Mutation_p.Q1480*|IPO9-AS1_ENST00000421449.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1874					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCCCAACCTTCAGGCAACACT	0.522000													6	60					0	0	0.001168	0	0
ZFP36	7538	broad.mit.edu	37	19	39898933	39898933	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:39898933C>G	ENST00000597629.1	+	2	667	c.593C>G	c.(592-594)tCt>tGt	p.S198C	ZFP36_ENST00000248673.3_Missense_Mutation_p.S192C			P26651	TTP_HUMAN	ZFP36 ring finger protein	192					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCCTGCCCTCTGGCCGCCGG	0.692000													33	103					0	0	0.017118	0	0
CYP3A7	1551	broad.mit.edu	37	7	99305456	99305456	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:99305456G>A	ENST00000336374.2	-	12	1397	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	465					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TACAAGGTTTGAAGGAGAAGT	0.353000													24	184					0	0	0.016522	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													3	64					0	0	0.004672	0	0
SETX	23064	broad.mit.edu	37	9	135163631	135163631	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:135163631C>T	ENST00000372169.2	-	17	6498	c.6316G>A	c.(6316-6318)Gaa>Aaa	p.E2106K	SETX_ENST00000393220.1_Missense_Mutation_p.E2106K|SETX_ENST00000224140.5_Missense_Mutation_p.E2106K			Q7Z333	SETX_HUMAN	senataxin	2106					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACCTGTATTTCCCGTCCACCT	0.428000													10	22					0	0	0.008291	0	0
TMCC1	23023	broad.mit.edu	37	3	129389276	129389276	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:129389276G>A	ENST00000393238.3	-	4	1748	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W	TMCC1_ENST00000329333.5_Missense_Mutation_p.R291W|TMCC1_ENST00000426664.2_Missense_Mutation_p.R356W|TMCC1_ENST00000432054.2_Missense_Mutation_p.R146W	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	470						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGGTTTCCCGGATCTCCTGG	0.493000													30	140					0	0	0.007291	0	0
RPL37	6167	broad.mit.edu	37	5	40834692	40834692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:40834692G>T	ENST00000274242.5	-	2	169	c.20C>A	c.(19-21)tCg>tAg	p.S7*	RPL37_ENST00000504562.1_5'UTR|RPL37_ENST00000509877.1_Nonsense_Mutation_p.S7*|RPL37_ENST00000508493.1_Nonsense_Mutation_p.S7*	NM_000997.4	NP_000988.1	P61927	RL37_HUMAN	ribosomal protein L37	7					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	metal ion binding|protein binding|rRNA binding|structural constituent of ribosome			lung(3)|ovary(1)	4		Breast(839;0.238)				CTTTCCAAACGATGACGTTCC	0.478000													19	23					1.33834e-09	1.43547e-09	0.007413	1	0
FSIP2	401024	broad.mit.edu	37	2	186670088	186670088	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:186670088C>T	ENST00000343098.5	+	17	16322	c.16322C>T	c.(16321-16323)tCc>tTc	p.S5441F	FSIP2_ENST00000424728.1_Missense_Mutation_p.S5352F	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GATAAAATATCCAATTTTGTA	0.299000													15	57					0	0	0.004007	0	0
CLCN3	1182	broad.mit.edu	37	4	170628303	170628303	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr4:170628303G>A	ENST00000513761.1	+	11	2594	c.2035G>A	c.(2035-2037)Gat>Aat	p.D679N	CLCN3_ENST00000504131.2_Missense_Mutation_p.D662N|CLCN3_ENST00000360642.3_Missense_Mutation_p.D652N|CLCN3_ENST00000347613.4_Missense_Mutation_p.D679N	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	679	CBS 1.				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GACAGTGGATGATATAGAAAA	0.423000													27	92					0	0	0.004656	0	0
ACACA	31	broad.mit.edu	37	17	35614787	35614787	+	Splice_Site	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:35614787C>T	ENST00000353139.5	-	14	2145	c.1662_splice	c.e14-1	p.G555_splice	ACACA_ENST00000335166.5_Splice_Site_p.G440_splice|ACACA_ENST00000394406.2_Splice_Site_p.G518_splice|ACACA_ENST00000360679.3_Splice_Site_p.G460_splice	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	518	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGGCTTAAAACCCTGTTAGAG	0.388000													16	53					0	0	0.006122	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Nonsense_Mutation	SNP	C	C	A	rs121913384		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:21971096C>A	ENST00000304494.5	-	2	532	c.262G>T	c.(262-264)Gag>Tag	p.E88*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102V|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E88*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102V|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143V|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E37*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(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)		AGGAAGCCCTCCCGGGCAGCG	0.756000	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	9					1.5842e-08	1.69236e-08	0.016723	1	0
ERCC5	2073	broad.mit.edu	37	13	103514661	103514661	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr13:103514661C>T	ENST00000355739.4	+	8	2585	c.1162C>T	c.(1162-1164)Ctt>Ttt	p.L388F	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.S813F	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACCCCGGACTCTTTCAGCCAT	0.532000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				12	39					0	0	0.013537	0	0
KCNMB1	3779	broad.mit.edu	37	5	169812329	169812329	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:169812329G>A	ENST00000274629.4	-	2	565	c.123C>T	c.(121-123)ctC>ctT	p.L41L	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron|KCNMB1_ENST00000521859.1_Silent_p.L41L	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	41					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TTTTCTGGTAGAGGGGCAGCA	0.597000													24	68					0	0	0.021523	0	0
RP1	6101	broad.mit.edu	37	8	55537230	55537230	+	Splice_Site	SNP	T	T	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:55537230T>A	ENST00000220676.1	+	4	936	c.787_splice	c.e4-1	p.I263_splice		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	263					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATCTTTAAAGTAAGCACACAT	0.333000													20	55					0	0	0.016522	0	0
MX1	4599	broad.mit.edu	37	21	42817972	42817972	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr21:42817972G>C	ENST00000398600.2	+	15	2202	c.1177G>C	c.(1177-1179)Gag>Cag	p.E393Q	MX1_ENST00000398598.3_Missense_Mutation_p.E393Q|MX1_ENST00000288383.6_Missense_Mutation_p.E370Q|MX1_ENST00000455164.2_Missense_Mutation_p.E393Q	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	393					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CATGCAAGGAGAGGAAACTGT	0.398000													8	33					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179516230	179516230	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:179516230T>G	ENST00000589042.1	-	207	39721	c.39497A>C	c.(39496-39498)aAg>aCg	p.K13166T	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K10732T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K11659T|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11519	Ig-like 87.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K10732T(1)		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)			AGGCACCTTCTTTTCAGGAAC	0.473000													12	41					0	0	0.013537	0	0
PLXND1	23129	broad.mit.edu	37	3	129290406	129290406	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:129290406G>A	ENST00000393239.1	-	17	3460	c.3282C>T	c.(3280-3282)ttC>ttT	p.F1094F	PLXND1_ENST00000324093.4_Silent_p.F1094F			Q9Y4D7	PLXD1_HUMAN	plexin D1	1094	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCACCATGTGGAAACGCTCAC	0.662000													17	82					0	0	0.010504	0	0
NGDN	25983	broad.mit.edu	37	14	23940186	23940186	+	Splice_Site	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:23940186G>A	ENST00000397154.3	+	3	157	c.144_splice	c.e3+1	p.K48_splice	NGDN_ENST00000408901.3_Splice_Site_p.K48_splice			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	48	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTACAGAAAAGGTAAGATGTA	0.378000													13	48					0	0	0.020292	0	0
ZNF527	84503	broad.mit.edu	37	19	37879380	37879380	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:37879380G>A	ENST00000436120.2	+	5	536	c.429G>A	c.(427-429)gcG>gcA	p.A143A	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGGAAATGCGGAGAGGCATT	0.428000													18	40					0	0	0.004990	0	0
GOLGA2	2801	broad.mit.edu	37	9	131019928	131019928	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:131019928C>T	ENST00000421699.2	-	24	2601	c.2589G>A	c.(2587-2589)gaG>gaA	p.E863E		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	863						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						ACTCCTCCTTCTCCCGGTGCC	0.622000													26	102					0	0	0.005443	0	0
THOC1	9984	broad.mit.edu	37	18	214778	214778	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr18:214778C>A	ENST00000261600.6	-	21	1829	c.1822G>T	c.(1822-1824)Gac>Tac	p.D608Y		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	608	Death.				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				ATCTTCATGTCTTCACTGTCA	0.448000													14	62					1.3612e-06	1.44255e-06	0.003163	1	0
FSIP2	401024	broad.mit.edu	37	2	186670078	186670078	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:186670078G>A	ENST00000343098.5	+	17	16312	c.16312G>A	c.(16312-16314)Gat>Aat	p.D5438N	FSIP2_ENST00000424728.1_Missense_Mutation_p.D5349N	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGAGACAGTTGATAAAATATC	0.289000													12	59					0	0	0.010729	0	0
IQCG	84223	broad.mit.edu	37	3	197659136	197659136	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:197659136C>G	ENST00000265239.6	-	6	977	c.553G>C	c.(553-555)Gag>Cag	p.E185Q	IQCG_ENST00000455191.1_Missense_Mutation_p.E185Q|IQCG_ENST00000453254.1_Missense_Mutation_p.E185Q	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	185										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TCTTGCAACTCCTTAATGGTA	0.413000													16	121					0	0	0.003163	0	0
PGM1	5236	broad.mit.edu	37	1	64095639	64095639	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:64095639A>T	ENST00000371083.4	+	3	858	c.490A>T	c.(490-492)Aaa>Taa	p.K164*	PGM1_ENST00000371084.3_Nonsense_Mutation_p.K146*|PGM1_ENST00000540265.1_5'UTR	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	146					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AATAACTGATAAAATTTTCCA	0.418000													17	53					0	0	0.004007	0	0
MAP3K19	80122	broad.mit.edu	37	2	135738407	135738407	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:135738407G>A	ENST00000375845.3	-	9	3934	c.3904C>T	c.(3904-3906)Cgc>Tgc	p.R1302C	MAP3K19_ENST00000392917.3_Missense_Mutation_p.R434C|MAP3K19_ENST00000392918.3_Missense_Mutation_p.R436C|MAP3K19_ENST00000375844.3_Missense_Mutation_p.R484C|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R1189C|MAP3K19_ENST00000315513.3_Missense_Mutation_p.R163C|MAP3K19_ENST00000392915.1_3'UTR	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		AGGCACATGCGCACAAAGTCT	0.493000													11	19					0	0	0.013537	0	0
NID2	22795	broad.mit.edu	37	14	52496406	52496406	+	Missense_Mutation	SNP	C	C	G	rs17853445		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:52496406C>G	ENST00000216286.5	-	10	2259	c.2260G>C	c.(2260-2262)Gat>Cat	p.D754H	NID2_ENST00000541773.1_Missense_Mutation_p.D701H	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	754	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGGTCTGAATCCTCTGCATGA	0.502000													4	31					0	0	0.003080	0	0
PRKD1	5587	broad.mit.edu	37	14	30095738	30095738	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:30095738A>T	ENST00000331968.5	-	12	1979	c.1750T>A	c.(1750-1752)Ttt>Att	p.F584I	PRKD1_ENST00000415220.2_Missense_Mutation_p.F592I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	584	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCATCAGGAAAAATCTGATAT	0.313000													5	45					0	0	0.014758	0	0
USH2A	7399	broad.mit.edu	37	1	216373392	216373392	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:216373392C>T	ENST00000366943.2	-	17	3774	c.3388G>A	c.(3388-3390)Gtg>Atg	p.V1130M	USH2A_ENST00000366942.3_Missense_Mutation_p.V1130M|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.V1130M			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1130	Fibronectin type-III 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAACCATGCACATTGGTGGTC	0.363000										HNSCC(13;0.011)			19	72					0	0	0.007413	0	0
DNAH3	55567	broad.mit.edu	37	16	21069481	21069481	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:21069481G>C	ENST00000261383.3	-	27	3849	c.3850C>G	c.(3850-3852)Cag>Gag	p.Q1284E	DNAH3_ENST00000415178.1_Missense_Mutation_p.Q1284E	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1284	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATAACCACCTGTCCAGGCCAC	0.483000													8	48					0	0	0.004482	0	0
TRRAP	8295	broad.mit.edu	37	7	98601841	98601841	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:98601841G>A	ENST00000359863.4	+	67	10505	c.10296G>A	c.(10294-10296)atG>atA	p.M3432I	TRRAP_ENST00000446306.3_Missense_Mutation_p.M3421I|TRRAP_ENST00000355540.3_Missense_Mutation_p.M3403I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3432					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAGGATCCATGAAGCTTCATA	0.378000													25	153					0	0	0.005443	0	0
COL6A3	1293	broad.mit.edu	37	2	238285728	238285728	+	Silent	SNP	C	C	T	rs115874872	by1000genomes	TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:238285728C>T	ENST00000295550.4	-	7	3209	c.2757G>A	c.(2755-2757)gcG>gcA	p.A919A	COL6A3_ENST00000346358.4_Silent_p.A719A|COL6A3_ENST00000472056.1_Silent_p.A312A|COL6A3_ENST00000392004.3_Silent_p.A713A|COL6A3_ENST00000392003.2_Silent_p.A512A|COL6A3_ENST00000353578.4_Silent_p.A713A|COL6A3_ENST00000409809.1_Silent_p.A713A|COL6A3_ENST00000347401.3_Silent_p.A718A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	919	Nonhelical region.|VWFA 5.				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)		CATAGTCCAGCGCGTAGCCCA	0.527000													10	31					0	0	0.008291	0	0
ZIC3	7547	broad.mit.edu	37	X	136652134	136652134	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:136652134A>C	ENST00000287538.5	+	3	1859	c.1309A>C	c.(1309-1311)Aac>Cac	p.N437H	ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Intron	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	437					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AGCTTCTGCAAACAGTAAAGA	0.453000													31	109					0	0	0.013726	0	0
CBX2	84733	broad.mit.edu	37	17	77758352	77758352	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:77758352C>T	ENST00000310942.4	+	5	1214	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	370					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGGTGGGTCTCCTTGCCCGCC	0.697000													4	27					0	0	0.009096	0	0
CD209	30835	broad.mit.edu	37	19	7808012	7808012	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:7808012G>C	ENST00000315599.7	-	7	1150	c.1128C>G	c.(1126-1128)atC>atG	p.I376M	CD209_ENST00000301357.8_Missense_Mutation_p.I240M|CD209_ENST00000593660.1_Missense_Mutation_p.I306M|CD209_ENST00000593821.1_Missense_Mutation_p.I240M|CD209_ENST00000394173.4_Missense_Mutation_p.I215M|CD209_ENST00000602261.1_Missense_Mutation_p.I284M|CD209_ENST00000204801.8_Missense_Mutation_p.I332M|CD209_ENST00000354397.6_Missense_Mutation_p.I370M|CD209_ENST00000394161.5_Missense_Mutation_p.I140M|CD209_ENST00000315591.8_Missense_Mutation_p.I352M|CD209_ENST00000601951.1_Missense_Mutation_p.I352M	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	376	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ACTTTTTGCAGATCCAGAATT	0.542000													28	201					0	0	0.005443	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178557035	178557035	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:178557035G>A	ENST00000251582.7	-	16	2456	c.2355C>T	c.(2353-2355)tcC>tcT	p.S785S		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	785	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGAAGGTTTTGGAACTGGCAT	0.567000													15	38					0	0	0.020292	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368921	86368921	+	Missense_Mutation	SNP	T	T	C	rs34019808		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr13:86368921T>C	ENST00000400286.2	-	2	2321	c.1723A>G	c.(1723-1725)Atg>Gtg	p.M575V		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	575						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGTGTTGGCATGGATGGGTTA	0.448000													18	78					0	0	0.008871	0	0
TMCC1	23023	broad.mit.edu	37	3	129389275	129389275	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:129389275C>A	ENST00000393238.3	-	4	1749	c.1409G>T	c.(1408-1410)cGg>cTg	p.R470L	TMCC1_ENST00000329333.5_Missense_Mutation_p.R291L|TMCC1_ENST00000426664.2_Missense_Mutation_p.R356L|TMCC1_ENST00000432054.2_Missense_Mutation_p.R146L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	470						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGGGTTTCCCGGATCTCCTG	0.488000													29	140					3.73988e-18	4.12784e-18	0.006320	1	0
ZNF189	7743	broad.mit.edu	37	9	104170889	104170889	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:104170889G>A	ENST00000374861.3	+	3	1081	c.797G>A	c.(796-798)aGa>aAa	p.R266K	ZNF189_ENST00000259395.4_Missense_Mutation_p.R238K|ZNF189_ENST00000339664.2_Missense_Mutation_p.R280K	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	280					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAGCATCAAAGAACTCACACT	0.393000													27	226					0	0	0.004656	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18719918	18719918	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:18719918C>T	ENST00000433979.1	+	28	3931	c.3815C>T	c.(3814-3816)tCa>tTa	p.S1272L	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S1313L|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.S1272L	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1272	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTTACAAATTCAGATCACAGA	0.289000													11	76					0	0	0.013537	0	0
IL2RB	3560	broad.mit.edu	37	22	37539642	37539642	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:37539642C>G	ENST00000216223.5	-	3	320	c.122G>C	c.(121-123)aGa>aCa	p.R41T		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	41					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GATGTTGGCTCTCGAGTTGTA	0.602000													14	56					0	0	0.016723	0	0
ZNF37A	7587	broad.mit.edu	37	10	38407109	38407109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:38407109C>T	ENST00000351773.3	+	8	1860	c.1030C>T	c.(1030-1032)Caa>Taa	p.Q344*	ZNF37A_ENST00000361085.4_Nonsense_Mutation_p.Q344*	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	344						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AACCCTTACTCAACATCAAAG	0.398000													11	74					0	0	0.010729	0	0
SLC12A5	57468	broad.mit.edu	37	20	44663637	44663637	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:44663637G>A	ENST00000454036.1	+	2	248	c.172G>A	c.(172-174)Gag>Aag	p.E58K	SLC12A5_ENST00000243964.3_Missense_Mutation_p.E35K|SLC12A5_ENST00000539566.1_Missense_Mutation_p.E35K|SLC12A5_ENST00000372315.1_Missense_Mutation_p.E35K	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	58					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACCGACACAGAGAAGGGAAA	0.517000													13	74					0	0	0.016723	0	0
ESPNP	284729	broad.mit.edu	37	1	17026516	17026516	+	RNA	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:17026516C>G	ENST00000492551.1	-	0	1170					NR_026567.1																						AGGAGCTCGGCTGCGGGAAGA	0.716000													4	9					0	0	0.009096	0	0
SYT10	341359	broad.mit.edu	37	12	33535294	33535294	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:33535294C>T	ENST00000228567.3	-	5	1656	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N	SYT10_ENST00000535526.1_Missense_Mutation_p.D273N	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	454	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTATCGTAATCCATGACCGCA	0.458000													6	47					0	0	0.001984	0	0
MYH10	4628	broad.mit.edu	37	17	8387530	8387530	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:8387530C>T	ENST00000360416.3	-	37	5239	c.5101G>A	c.(5101-5103)Gag>Aag	p.E1701K	MYH10_ENST00000396239.1_Missense_Mutation_p.E1691K|MYH10_ENST00000379980.4_Missense_Mutation_p.E1686K|MYH10_ENST00000269243.4_Missense_Mutation_p.E1670K	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1670					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GCAAAAATCTCATCTCTGGAT	0.373000													11	71					0	0	0.010729	0	0
SHB	6461	broad.mit.edu	37	9	38016078	38016078	+	Silent	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:38016078G>C	ENST00000377707.3	-	2	1333	c.768C>G	c.(766-768)ctC>ctG	p.L256L	RP11-613M10.9_ENST00000540557.1_Silent_p.L256L|SHB_ENST00000377700.4_Silent_p.L256L	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	256	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CTTTGCTCTTGAGATCATTCT	0.522000													6	83					0	0	0.001984	0	0
SOX5	6660	broad.mit.edu	37	12	23818434	23818434	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:23818434G>T	ENST00000546136.1	-	6	838	c.836C>A	c.(835-837)gCa>gAa	p.A279E	SOX5_ENST00000309359.1_Missense_Mutation_p.A279E|SOX5_ENST00000545921.1_Missense_Mutation_p.A282E|SOX5_ENST00000381381.2_Missense_Mutation_p.A279E|SOX5_ENST00000451604.2_Missense_Mutation_p.A292E|SOX5_ENST00000541536.1_Missense_Mutation_p.A279E|SOX5_ENST00000537393.1_Missense_Mutation_p.A257E			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	292					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTGGGCAGCTGCAGCCAGTGT	0.507000													61	95					9.53978e-28	1.06175e-27	0.014410	1	0
BZRAP1	9256	broad.mit.edu	37	17	56382487	56382487	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:56382487C>T	ENST00000355701.3	-	30	6349	c.5479G>A	c.(5479-5481)Gag>Aag	p.E1827K	BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1767K|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E1827K	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1827	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGGGCCCTCCAGGAAGTTG	0.637000													8	38					0	0	0.004482	0	0
CES1P1	51716	broad.mit.edu	37	16	55801402	55801402	+	RNA	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:55801402C>T	ENST00000571348.1	+	0	429					NR_003276.2																						GCTGACTTGACCAAGAAAAAC	0.478000													24	120					0	0	0.018920	0	0
WDR7	23335	broad.mit.edu	37	18	54547249	54547249	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr18:54547249A>G	ENST00000254442.3	+	21	3590	c.3379A>G	c.(3379-3381)Att>Gtt	p.I1127V	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.I1094V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1127										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGCTACCGCTATTGTTTTACT	0.398000													13	46					0	0	0.004007	0	0
SYNE1	23345	broad.mit.edu	37	6	152510447	152510447	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:152510447G>A	ENST00000367255.5	-	128	23842	c.23241C>T	c.(23239-23241)atC>atT	p.I7747I	SYNE1_ENST00000265368.4_Silent_p.I7747I|SYNE1_ENST00000423061.1_Silent_p.I7676I|SYNE1_ENST00000356820.4_Silent_p.I2271I|SYNE1_ENST00000341594.5_Silent_p.I7359I|SYNE1_ENST00000448038.1_Silent_p.I7676I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7747					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAAGAATGGAGATATCATCAG	0.433000										HNSCC(10;0.0054)			15	80					0	0	0.003163	0	0
PIK3R5	23533	broad.mit.edu	37	17	8792140	8792140	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:8792140C>T	ENST00000447110.1	-	10	1088	c.964G>A	c.(964-966)Gag>Aag	p.E322K	PIK3R5_ENST00000581552.1_Missense_Mutation_p.E322K|PIK3R5_ENST00000584803.1_Missense_Mutation_p.E322K	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	322				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						tcttcctcctcttcATCATCT	0.587000													3	25					0	0	0.009096	0	0
GAB3	139716	broad.mit.edu	37	X	153944337	153944337	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:153944337G>T	ENST00000369575.3	-	2	371	c.340C>A	c.(340-342)Cag>Aag	p.Q114K	GAB3_ENST00000424127.2_Missense_Mutation_p.Q114K|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	114	PH.									NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGCAGACCTGACTGATGCTG	0.522000													106	50					9.94044e-53	1.11099e-52	0.014410	1	0
ACER2	340485	broad.mit.edu	37	9	19435048	19435048	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:19435048C>T	ENST00000340967.2	+	4	495	c.469C>T	c.(469-471)Cct>Tct	p.P157S	ACER2_ENST00000380376.1_Missense_Mutation_p.P108S	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	157					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						CCTGGGAGTTCCTTGCACTGC	0.552000													16	48					0	0	0.004990	0	0
MYT1L	23040	broad.mit.edu	37	2	1921002	1921002	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:1921002C>T	ENST00000399161.2	-	11	2340	c.1593G>A	c.(1591-1593)ccG>ccA	p.P531P	MYT1L_ENST00000428368.2_Silent_p.P529P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	531					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P531P(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TATCTTTGTGCGGGCATCCGG	0.562000													4	187					0	0	0.009096	0	0
RPL37	6167	broad.mit.edu	37	5	40834693	40834693	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:40834693A>T	ENST00000274242.5	-	2	168	c.19T>A	c.(19-21)Tcg>Acg	p.S7T	RPL37_ENST00000504562.1_5'UTR|RPL37_ENST00000509877.1_Missense_Mutation_p.S7T|RPL37_ENST00000508493.1_Missense_Mutation_p.S7T	NM_000997.4	NP_000988.1	P61927	RL37_HUMAN	ribosomal protein L37	7					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	metal ion binding|protein binding|rRNA binding|structural constituent of ribosome			lung(3)|ovary(1)	4		Breast(839;0.238)				TTTCCAAACGATGACGTTCCC	0.478000													19	24					0	0	0.008871	0	0
EPHA7	2045	broad.mit.edu	37	6	93979222	93979222	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:93979222C>T	ENST00000369303.4	-	7	1790	c.1606G>A	c.(1606-1608)Gag>Aag	p.E536K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	536						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTAGCTTCCTCTAGTGTAGCA	0.353000													14	62					0	0	0.003163	0	0
IFIH1	64135	broad.mit.edu	37	2	163133418	163133418	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:163133418C>A	ENST00000263642.2	-	11	2478	c.2083G>T	c.(2083-2085)Gaa>Taa	p.E695*		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	695					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TTTTCATATTCTGGGTTTTCA	0.328000													24	68					3.5997e-14	3.92426e-14	0.014323	1	0
PCDHGB6	56100	broad.mit.edu	37	5	140788504	140788504	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:140788504C>T	ENST00000520790.1	+	1	735	c.735C>T	c.(733-735)gaC>gaT	p.D245D	PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCAGAGACGAATATAGAA	0.502000													3	14					0	0	0.004672	0	0
MBIP	51562	broad.mit.edu	37	14	36780830	36780830	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:36780830C>A	ENST00000416007.4	-	6	826	c.739G>T	c.(739-741)Gct>Tct	p.A247S	MBIP_ENST00000318473.7_Missense_Mutation_p.A247S|MBIP_ENST00000359527.7_Missense_Mutation_p.A247S|MBIP_ENST00000603913.1_5'UTR	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	247	Interaction with MAP3K12.				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		TCTTCTACAGCCTGATTACCA	0.443000													18	43					4.96729e-08	5.2852e-08	0.008871	1	0
PRC1	9055	broad.mit.edu	37	15	91527353	91527353	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:91527353C>T	ENST00000361188.5	-	3	1373	c.162G>A	c.(160-162)atG>atA	p.M54I	PRC1_ENST00000442656.2_Intron|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.M54I|PRC1_ENST00000556129.1_5'UTR|PRC1_ENST00000361919.3_Missense_Mutation_p.M54I			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	54	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CTTCAGCAATCATCATATCCA	0.433000													50	274					0	0	0.014410	0	0
DNAH3	55567	broad.mit.edu	37	16	20976685	20976685	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:20976685C>G	ENST00000261383.3	-	53	8520	c.8521G>C	c.(8521-8523)Gag>Cag	p.E2841Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2841	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTAAGACTCTCCAAGAATTTC	0.423000													4	151					0	0	0.001984	0	0
RASAL1	8437	broad.mit.edu	37	12	113544929	113544929	+	Missense_Mutation	SNP	G	G	A	rs61759863		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:113544929G>A	ENST00000546530.1	-	16	1918	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.R544W|RASAL1_ENST00000446861.3_Missense_Mutation_p.R544W|RASAL1_ENST00000261729.5_Missense_Mutation_p.R544W	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	544					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCCACCAGCCGGTCCAGGAAG	0.607000													16	35					0	0	0.007413	0	0
KEL	3792	broad.mit.edu	37	7	142651327	142651327	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:142651327C>T	ENST00000355265.2	-	8	1342	c.868G>A	c.(868-870)Gag>Aag	p.E290K	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	290					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CGCCGCTGCTCCAGGGGCCTC	0.582000													4	30					0	0	0.014758	0	0
OR2M7	391196	broad.mit.edu	37	1	248487682	248487682	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:248487682G>A	ENST00000317965.2	-	1	217	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGTTGGCTGAGGAGGAAGT	0.527000													45	246					0	0	0.014410	0	0
GANC	2595	broad.mit.edu	37	15	42584947	42584947	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr15:42584947C>G	ENST00000318010.8	+	5	584	c.344C>G	c.(343-345)tCt>tGt	p.S115C	GANC_ENST00000566442.1_Missense_Mutation_p.S115C	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	115					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		ATTTCATGCTCTGGGGACACA	0.423000													16	60					0	0	0.004007	0	0
SEC23IP	11196	broad.mit.edu	37	10	121685713	121685713	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:121685713G>A	ENST00000369075.3	+	13	2359	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	SEC23IP_ENST00000543134.1_Missense_Mutation_p.E552K	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	763					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TGTGAATTATGAATCTTTTGA	0.433000													19	92					0	0	0.012319	0	0
TGM3	7053	broad.mit.edu	37	20	2293573	2293573	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:2293573C>T	ENST00000381458.5	+	5	633	c.570C>T	c.(568-570)ctC>ctT	p.L190L		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	190					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCATCTGCCTCTCAATCTTGG	0.478000													9	193					0	0	0.008291	0	0
KIAA1524	57650	broad.mit.edu	37	3	108308177	108308177	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:108308177G>C	ENST00000295746.8	-	1	122	c.46C>G	c.(46-48)Cag>Gag	p.Q16E	KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	16						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTTTGTACTGACTGACAGTC	0.627000													3	49					0	0	0.004672	0	0
AIM1	202	broad.mit.edu	37	6	106973169	106973169	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:106973169C>T	ENST00000369066.3	+	4	3583	c.3096C>T	c.(3094-3096)gtC>gtT	p.V1032V		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1032	Beta/gamma crystallin 'Greek key' 1.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AACCCGACGTCTCTGAGAAGT	0.403000													31	145					0	0	0.009535	0	0
ZNF300	91975	broad.mit.edu	37	5	150277669	150277669	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr5:150277669A>G	ENST00000427179.1	-	5	446	c.220T>C	c.(220-222)Tca>Cca	p.S74P	ZNF300_ENST00000274599.5_Missense_Mutation_p.S74P|ZNF300_ENST00000394226.2_Missense_Mutation_p.S74P|ZNF300_ENST00000446148.2_Missense_Mutation_p.S90P|ZNF300_ENST00000418587.2_Missense_Mutation_p.S38P			Q96RE9	ZN300_HUMAN	zinc finger protein 300	74	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCAATTTGATATGTCTCCC	0.378000													19	60					0	0	0.012319	0	0
SGK2	10110	broad.mit.edu	37	20	42199697	42199697	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:42199697C>A	ENST00000373100.1	+	9	967	c.507C>A	c.(505-507)tgC>tgA	p.C169*	SGK2_ENST00000373077.1_Nonsense_Mutation_p.C168*|SGK2_ENST00000373092.3_Nonsense_Mutation_p.C169*|SGK2_ENST00000426287.1_Nonsense_Mutation_p.C195*|SGK2_ENST00000423407.3_Nonsense_Mutation_p.C169*|SGK2_ENST00000341458.4_Nonsense_Mutation_p.C229*			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	229	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCTTGGACTGCCAGGTTGgtg	0.478000													11	55					0.010729	0.0111919	0.010729	1	0
NLRP13	126204	broad.mit.edu	37	19	56436023	56436023	+	Splice_Site	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:56436023C>T	ENST00000588751.1	-	3	414	c.388_splice	c.e3-1	p.G130_splice	NLRP13_ENST00000342929.3_Splice_Site_p.G130_splice			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	130							ATP binding	p.G130G(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCTGCATATTCCCTGAAATAA	0.418000													10	41					0	0	0.008291	0	0
FBLN5	10516	broad.mit.edu	37	14	92403316	92403316	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:92403316C>T	ENST00000267620.10	-	5	646	c.477G>A	c.(475-477)caG>caA	p.Q159Q	FBLN5_ENST00000342058.4_Silent_p.Q118Q|FBLN5_ENST00000556154.1_Silent_p.Q123Q			Q9UBX5	FBLN5_HUMAN	fibulin 5	118	EGF-like 2; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TTTCATCCATCTGGTATCCAA	0.552000													26	81					0	0	0.004656	0	0
STX4	6810	broad.mit.edu	37	16	31045559	31045559	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:31045559C>T	ENST00000394998.1	+	4	482	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Missense_Mutation_p.R49W	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	49					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	p.R49R(1)		NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CCGGACAATTCGGCAGACTAT	0.577000													34	179					0	0	0.019004	0	0
ALCAM	214	broad.mit.edu	37	3	105269028	105269028	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:105269028G>A	ENST00000306107.5	+	12	1932	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	ALCAM_ENST00000389927.4_Missense_Mutation_p.E200K|ALCAM_ENST00000472644.2_Missense_Mutation_p.E478K|ALCAM_ENST00000486979.2_Missense_Mutation_p.E427K	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	478	Ig-like C2-type 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CATTTCCCCTGAAGAGAATGT	0.348000													7	199					0	0	0.001984	0	0
MEFV	4210	broad.mit.edu	37	16	3304353	3304353	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:3304353G>A	ENST00000219596.1	-	2	754	c.715C>T	c.(715-717)Cga>Tga	p.R239*	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	239					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CTTCTAGGTCGCATCTTTCCC	0.612000													4	119					0	0	0.009096	0	0
DOCK4	9732	broad.mit.edu	37	7	111400292	111400292	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:111400292G>A	ENST00000428084.1	-	40	4379	c.4107C>T	c.(4105-4107)atC>atT	p.I1369I	DOCK4_ENST00000437633.1_Silent_p.I1360I|DOCK4_ENST00000494651.2_Silent_p.I243I			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1360	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GCTGCATGGCGATGGCATGGG	0.547000													27	245					0	0	0.004656	0	0
MATN3	4148	broad.mit.edu	37	2	20192895	20192895	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:20192895C>G	ENST00000407540.3	-	8	1500	c.1438G>C	c.(1438-1440)Gaa>Caa	p.E480Q	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Missense_Mutation_p.E438Q	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	480					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCCATATTCATTTATTTTC	0.328000													6	44					0	0	0.003080	0	0
TENM1	10178	broad.mit.edu	37	X	123775763	123775763	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:123775763C>A	ENST00000422452.2	-	11	2018	c.1955G>T	c.(1954-1956)gGa>gTa	p.G652V	TENM1_ENST00000371130.3_Missense_Mutation_p.G652V	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ACAGTTAACTCCTCCCCAGCC	0.498000													48	163					3.76525e-18	4.13866e-18	0.014410	1	0
SGPP2	130367	broad.mit.edu	37	2	223423616	223423616	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:223423616G>C	ENST00000321276.7	+	5	1285	c.1199G>C	c.(1198-1200)tGa>tCa	p.*400S		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	0					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		GGATTACCCTGAGTCTCAAAC	0.423000													7	30					0	0	0.001984	0	0
SEC23IP	11196	broad.mit.edu	37	10	121689932	121689932	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:121689932G>C	ENST00000369075.3	+	15	2633	c.2561G>C	c.(2560-2562)aGa>aCa	p.R854T	SEC23IP_ENST00000475542.1_Intron|SEC23IP_ENST00000543134.1_Missense_Mutation_p.R643T	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	854	DDHD.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	p.R854I(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GGCAGAAAAAGACTTCATTTA	0.313000													13	54					0	0	0.013537	0	0
RSPH4A	345895	broad.mit.edu	37	6	116937941	116937941	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:116937941G>A	ENST00000229554.5	+	1	292	c.155G>A	c.(154-156)gGa>gAa	p.G52E	RSPH4A_ENST00000368581.4_Missense_Mutation_p.G52E|RSPH4A_ENST00000368580.4_Missense_Mutation_p.G52E	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	52					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCAGAAACTGGACGCCAGTCC	0.612000									Kartagener syndrome				5	27					0	0	0.014758	0	0
FUT5	2527	broad.mit.edu	37	19	5866613	5866613	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:5866613C>T	ENST00000252675.5	-	5	1686	c.1124G>A	c.(1123-1125)tGa>tAa	p.*375*	FUT5_ENST00000588525.1_Silent_p.*375*			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	0					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GCCGGCCTCTCAGGTGAACCA	0.632000													17	85					0	0	0.004990	0	0
ZFHX3	463	broad.mit.edu	37	16	72821592	72821592	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:72821592G>A	ENST00000268489.5	-	10	11255	c.10583C>T	c.(10582-10584)tCg>tTg	p.S3528L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2614L|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3528					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCAGTGGTACGAgccgccgcc	0.692000													11	26					0	0	0.016723	0	0
PLSCR4	57088	broad.mit.edu	37	3	145917778	145917778	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:145917778G>A	ENST00000354952.2	-	6	686	c.446C>T	c.(445-447)tCa>tTa	p.S149L	PLSCR4_ENST00000493382.1_Missense_Mutation_p.S149L|PLSCR4_ENST00000446574.2_Missense_Mutation_p.S149L|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000383083.2_Intron	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	149				S -> L (in Ref. 6; AAP97186).	blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CATCTGGTCTGAGTTGTTTTT	0.358000													11	50					0	0	0.010729	0	0
SLC9B1	150159	broad.mit.edu	37	4	103822391	103822391	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr4:103822391G>C	ENST00000296422.7	-	12	1572	c.1431C>G	c.(1429-1431)atC>atG	p.I477M	SLC9B1_ENST00000394789.3_Intron|SLC9B1_ENST00000512651.2_5'UTR	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	477						integral to membrane	solute:hydrogen antiporter activity										CTGTGATCAAGATGGCTAAAA	0.458000													15	214					0	0	0.007413	0	0
IL2RB	3560	broad.mit.edu	37	22	37539602	37539602	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:37539602C>T	ENST00000216223.5	-	3	360	c.162G>A	c.(160-162)ctG>ctA	p.L54L		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	54					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AAGTGTCCTGCAGAGCCCCAT	0.562000													15	41					0	0	0.004007	0	0
RP11-849F2.7	0	broad.mit.edu	37	17	8285520	8285520	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:8285520C>G	ENST00000582471.1	-	2	159	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	RPL26_ENST00000582556.1_Missense_Mutation_p.E37Q|RPL26_ENST00000585176.1_Intron|RPL26_ENST00000293842.5_Missense_Mutation_p.E37Q|RPL26_ENST00000584164.1_Missense_Mutation_p.E37Q|RPL26_ENST00000583011.1_Missense_Mutation_p.E37Q|RPL26_ENST00000578812.1_Missense_Mutation_p.E37Q																							TGTCTCAGCTCTTTGGAAAGA	0.448000													9	48					0	0	0.006214	0	0
BICD1	636	broad.mit.edu	37	12	32369208	32369208	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:32369208C>T	ENST00000548411.1	+	2	422	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	BICD1_ENST00000281474.5_Missense_Mutation_p.R81W	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	81					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CTCCATCCACCGGAAGGTTGC	0.468000													11	28					0	0	0.016723	0	0
MEFV	4210	broad.mit.edu	37	16	3304662	3304662	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:3304662C>T	ENST00000219596.1	-	2	445	c.406G>A	c.(406-408)Ggg>Agg	p.G136R	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	136					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GCTCCGCCCCCGTACGGCCGA	0.701000													5	31					0	0	0.001984	0	0
GOLIM4	27333	broad.mit.edu	37	3	167742328	167742328	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:167742328C>T	ENST00000470487.1	-	14	2535	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E588K	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	616	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCTTCTGCCTCTTCCTGGTAC	0.443000													4	89					0	0	0.009096	0	0
KRT4	3851	broad.mit.edu	37	12	53201525	53201525	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:53201525G>A	ENST00000293774.4	-	7	1741	c.1471C>T	c.(1471-1473)Cga>Tga	p.R491*	KRT4_ENST00000458244.2_Nonsense_Mutation_p.R397*|KRT4_ENST00000551956.1_Nonsense_Mutation_p.R417*			B4DRS2	B4DRS2_HUMAN	keratin 4	417						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CGCAGCATTCGTGCCAGCTCC	0.602000													19	58					0	0	0.006122	0	0
SLC12A9	56996	broad.mit.edu	37	7	100463640	100463640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:100463640C>T	ENST00000354161.3	+	14	2283	c.2158C>T	c.(2158-2160)Cag>Tag	p.Q720*		NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	720						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGCACCTCTCAGCTGCACCA	0.692000													31	317					0	0	0.009535	0	0
HIST1H2AM	8336	broad.mit.edu	37	6	27860925	27860925	+	Translation_Start_Site	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:27860925C>T	ENST00000359611.2	-	1	38	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	1					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CACGTCCAGACATGGTAAAAC	0.577000													23	20					0	0	0.004656	0	0
DOPEY1	23033	broad.mit.edu	37	6	83818774	83818774	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:83818774G>A	ENST00000349129.2	+	5	726	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	DOPEY1_ENST00000369739.3_Missense_Mutation_p.E156K|DOPEY1_ENST00000536812.1_Missense_Mutation_p.E156K|DOPEY1_ENST00000237163.5_Missense_Mutation_p.E156K	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	156					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCCTGGCTTAGAAGAAGGATC	0.373000													23	73					0	0	0.012319	0	0
ANO7	50636	broad.mit.edu	37	2	242135211	242135211	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:242135211G>A	ENST00000274979.8	+	4	525	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	ANO7_ENST00000402430.3_Missense_Mutation_p.R140Q|ANO7_ENST00000402530.3_Missense_Mutation_p.R140Q	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	141						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AGGACCTGGCGGGAGACTTTT	0.607000													14	32					0	0	0.016723	0	0
INSC	387755	broad.mit.edu	37	11	15222370	15222370	+	Splice_Site	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:15222370G>A	ENST00000379554.3	+	7	881	c.834_splice	c.e7-1	p.E279_splice	INSC_ENST00000525218.1_Intron|INSC_ENST00000530161.1_Splice_Site_p.E232_splice|INSC_ENST00000447214.2_Intron|INSC_ENST00000379556.3_Splice_Site_p.E232_splice|INSC_ENST00000528567.1_Splice_Site_p.E232_splice|INSC_ENST00000424273.1_Intron	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	279					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CTCTTGGCAGGAGGGTGGGGT	0.547000													4	30					0	0	0.014758	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21422497	21422497	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:21422497C>T	ENST00000307378.6	-	16	2718	c.1998G>A	c.(1996-1998)ttG>ttA	p.L666L	SLCO1A2_ENST00000458504.1_Silent_p.L534L|SLCO1A2_ENST00000452078.1_Silent_p.L666L|SLCO1A2_ENST00000537524.1_Silent_p.L534L	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	666					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						ATTTAGTTTTCAATTCATCAT	0.299000													18	87					0	0	0.007413	0	0
C1orf173	127254	broad.mit.edu	37	1	75078403	75078403	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:75078403G>A	ENST00000326665.5	-	9	1309	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F	C1orf173_ENST00000420661.2_Missense_Mutation_p.S167F|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	364										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCACAACAGGAGCTTAACCT	0.443000													8	33					0	0	0.004482	0	0
DNAJC5	80331	broad.mit.edu	37	20	62562255	62562255	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:62562255C>T	ENST00000360864.4	+	4	526	c.373C>T	c.(373-375)Ctg>Ttg	p.L125L	DNAJC5_ENST00000369911.2_Silent_p.L125L	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	125	Poly-Cys.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ctgctgctgtctgtgctgctg	0.622000													5	68					0	0	0.014758	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166944772	166944772	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:166944772G>A	ENST00000510118.1	-	5	661	c.321C>T	c.(319-321)tcC>tcT	p.S107S	RPS6KA2_ENST00000366863.2_5'UTR|RPS6KA2_ENST00000405189.3_5'UTR|RPS6KA2_ENST00000265678.4_Silent_p.S82S|RPS6KA2_ENST00000481261.2_5'UTR|RPS6KA2_ENST00000503859.1_Silent_p.S90S			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	82	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GCCCAGCGTCGGACCCCTTCA	0.498000													23	66					0	0	0.016522	0	0
MAST2	23139	broad.mit.edu	37	1	46476424	46476424	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:46476424G>A	ENST00000361297.2	+	10	1284	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	MAST2_ENST00000372008.1_Missense_Mutation_p.R219Q|MAST2_ENST00000372009.2_Intron	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	334					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ATGGAAGAGCGACTAGCAGAG	0.502000													7	33					0	0	0.003080	0	0
RUSC2	9853	broad.mit.edu	37	9	35558285	35558285	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:35558285G>A	ENST00000455600.1	+	7	3721	c.3152G>A	c.(3151-3153)gGg>gAg	p.G1051E		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1051	RUN.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CTGGAGGATGGGCTCAAGGCC	0.582000													8	58					0	0	0.004482	0	0
KIAA1109	84162	broad.mit.edu	37	4	123252691	123252691	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr4:123252691G>C	ENST00000264501.4	+	67	11833	c.11460G>C	c.(11458-11460)ttG>ttC	p.L3820F	KIAA1109_ENST00000388738.3_Missense_Mutation_p.L3820F			Q2LD37	K1109_HUMAN	KIAA1109	3820					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATATAAGTTTGAGAAGGTAAG	0.313000													4	26					0	0	0.009096	0	0
COL6A1	1291	broad.mit.edu	37	21	47404200	47404200	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr21:47404200G>A	ENST00000361866.3	+	3	359	c.245G>A	c.(244-246)cGa>cAa	p.R82Q		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	82	N-terminal globular domain.|VWFA 1.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CGCTGTGACCGAAACCTGGTG	0.682000													4	4					0	0	0.009096	0	0
CPED1	79974	broad.mit.edu	37	7	120629789	120629789	+	Silent	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:120629789G>C	ENST00000310396.5	+	2	581	c.114G>C	c.(112-114)tcG>tcC	p.S38S	CPED1_ENST00000340646.5_Silent_p.S38S|CPED1_ENST00000450913.2_Silent_p.S38S|CPED1_ENST00000495036.1_3'UTR	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TCCGAGGGTCGAGGAAGCTCA	0.572000													12	63					0	0	0.020292	0	0
HIST1H2AK	8330	broad.mit.edu	37	6	27805967	27805967	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:27805967A>T	ENST00000330180.2	-	1	150	c.151T>A	c.(151-153)Tac>Aac	p.Y51N		NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	51					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						GCCGCCAGGTACACCGGCGCT	0.657000													7	52					0	0	0.001984	0	0
CXXC1	30827	broad.mit.edu	37	18	47810778	47810778	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr18:47810778G>A	ENST00000285106.6	-	9	1889	c.1175C>T	c.(1174-1176)tCa>tTa	p.S392L	CXXC1_ENST00000412036.2_Missense_Mutation_p.S396L|CXXC1_ENST00000589940.1_Missense_Mutation_p.S392L	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	392					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ACAGTCATCTGAGCAATACTT	0.602000													14	65					0	0	0.020292	0	0
ZNF549	256051	broad.mit.edu	37	19	58046527	58046527	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:58046527G>A	ENST00000602149.1	+	3	236	c.88G>A	c.(88-90)Gag>Aag	p.E30K	ZNF549_ENST00000240719.3_Missense_Mutation_p.E17K|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000376233.3_Missense_Mutation_p.E30K			Q6P9A3	ZN549_HUMAN	zinc finger protein 549	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGACCTTTGAGGATATTGC	0.502000													10	45					0	0	0.006214	0	0
ZNF785	146540	broad.mit.edu	37	16	30594258	30594258	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:30594258C>T	ENST00000395216.2	-	3	1000	c.841G>A	c.(841-843)Gag>Aag	p.E281K	AC002310.7_ENST00000492040.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.E266K	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						TAGGGCTTCTCGCCCGTGTGC	0.642000													5	44					0	0	0.001168	0	0
C6orf165	154313	broad.mit.edu	37	6	88173822	88173822	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:88173822C>G	ENST00000507897.1	+	13	1806	c.1723C>G	c.(1723-1725)Cca>Gca	p.P575A	C6orf165_ENST00000506888.1_3'UTR|C6ORF165_ENST00000369562.4_Missense_Mutation_p.P575A			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	575										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGTGTACCCTCCAAAGGACAC	0.473000													9	30					0	0	0.004482	0	0
XPA	7507	broad.mit.edu	37	9	100459507	100459507	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:100459507G>A	ENST00000375128.4	-	1	132	c.68C>T	c.(67-69)tCg>tTg	p.S23L		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	23	Interaction with CEP164 and required for UV resistance.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CGCCCGCACCGAGGCAGGCAG	0.731000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	26					0	0	0.001168	0	0
ZFHX3	463	broad.mit.edu	37	16	72992974	72992974	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:72992974G>A	ENST00000268489.5	-	2	1743	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	357					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGGGCCTATGAGGTTAGCTG	0.507000													24	77					0	0	0.016522	0	0
TTN	7273	broad.mit.edu	37	2	179501496	179501496	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:179501496T>G	ENST00000589042.1	-	225	41182	c.40958A>C	c.(40957-40959)gAa>gCa	p.E13653A	TTN_ENST00000359218.5_Missense_Mutation_p.E4713A|TTN_ENST00000342992.6_Missense_Mutation_p.E11085A|TTN_ENST00000342175.6_Missense_Mutation_p.E4780A|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E12012A|TTN_ENST00000460472.2_Missense_Mutation_p.E4588A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12012	Ig-like 92.						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)			CCTTTCGGCTTCTATTGGTGA	0.448000													16	31					0	0	0.004990	0	0
NXNL2	158046	broad.mit.edu	37	9	91150602	91150602	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr9:91150602G>A	ENST00000375855.3	+	1	583	c.253G>A	c.(253-255)Gag>Aag	p.E85K	NXNL2_ENST00000487646.2_3'UTR|NXNL2_ENST00000375854.3_Missense_Mutation_p.E85K	NM_145283.2	NP_660326.2	Q5VZ03	NXNL2_HUMAN	nucleoredoxin-like 2	85	Thioredoxin.									lung(3)	3						CTTCATGCGCGAGCTGCATGG	0.726000													3	37					0	0	0.004672	0	0
PCNX	22990	broad.mit.edu	37	14	71540300	71540300	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:71540300G>A	ENST00000304743.2	+	27	5337	c.4891G>A	c.(4891-4893)Gaa>Aaa	p.E1631K	PCNX_ENST00000439984.3_Missense_Mutation_p.E1520K|PCNX_ENST00000238570.5_Missense_Mutation_p.E1559K	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1631						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGCCATTACTGAAGGTGTAGA	0.448000													22	62					0	0	0.010504	0	0
EYS	346007	broad.mit.edu	37	6	66204797	66204797	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr6:66204797C>T	ENST00000503581.1	-	4	1044	c.507G>A	c.(505-507)gtG>gtA	p.V169V	EYS_ENST00000342421.5_Silent_p.V169V|EYS_ENST00000393380.2_Silent_p.V169V|EYS_ENST00000370616.2_Silent_p.V169V|EYS_ENST00000370618.3_Silent_p.V169V|EYS_ENST00000370621.3_Silent_p.V169V	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	169					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACTGCTGTTTCACTGTCACAT	0.433000													11	30					0	0	0.013537	0	0
SPSB2	84727	broad.mit.edu	37	12	6980481	6980481	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:6980481C>T	ENST00000524270.1	-	3	853	c.667G>A	c.(667-669)Gag>Aag	p.E223K	SPSB2_ENST00000523102.1_Missense_Mutation_p.E223K	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	223	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						GAGTGTGGCTCCGCTGGGAGA	0.617000													5	36					0	0	0.001168	0	0
KMT2A	4297	broad.mit.edu	37	11	118362545	118362545	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:118362545C>T	ENST00000534358.1	+	15	4929	c.4906C>T	c.(4906-4908)Cga>Tga	p.R1636*	KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R1633*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R1595*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TGCAGAGTGGCGACTGGCCCT	0.468000													14	32					0	0	0.020292	0	0
OR10K2	391107	broad.mit.edu	37	1	158390345	158390345	+	Silent	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:158390345G>A	ENST00000314902.2	-	1	311	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CAAGGAAGAGGAAGGAAAACA	0.488000													12	102					0	0	0.010729	0	0
ACAP2	23527	broad.mit.edu	37	3	195028031	195028031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:195028031C>A	ENST00000326793.6	-	12	1161	c.931G>T	c.(931-933)Gaa>Taa	p.E311*		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	311	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CTGAGGTCTTCAACTACCACA	0.368000													4	165					0.00909568	0.0095254	0.009096	1	0
SLC6A4	6532	broad.mit.edu	37	17	28548952	28548952	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:28548952G>C	ENST00000401766.2	-	2	537	c.25C>G	c.(25-27)Cag>Gag	p.Q9E	SLC6A4_ENST00000261707.3_Missense_Mutation_p.Q9E			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	9					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AGCTGCTTCTGAGAATTCAAG	0.502000													15	41					0	0	0.003163	0	0
NCAM2	4685	broad.mit.edu	37	21	22881273	22881273	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr21:22881273C>T	ENST00000400546.1	+	16	2428	c.2179C>T	c.(2179-2181)Cgg>Tgg	p.R727W	NCAM2_ENST00000284894.7_Missense_Mutation_p.R585W	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	727					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CTTCTTTATTCGGCAATGTGG	0.468000													13	42					0	0	0.020292	0	0
PLCB3	5331	broad.mit.edu	37	11	64029989	64029989	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:64029989G>A	ENST00000540288.1	+	18	2252	c.2149G>A	c.(2149-2151)Gag>Aag	p.E717K	PLCB3_ENST00000279230.6_Missense_Mutation_p.E717K|PLCB3_ENST00000325234.5_Missense_Mutation_p.E650K	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	717	C2.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCCCTTCACTGAGGTCATCGT	0.647000													18	42					0	0	0.007413	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178834726	178834726	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:178834726C>T	ENST00000234816.2	-	3	633	c.186G>A	c.(184-186)ggG>ggA	p.G62G	RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000324778.4_Intron|ANGPTL1_ENST00000367629.1_Silent_p.G62G	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	62						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						CACAGATTGGCCCTGTTATTC	0.443000													3	47					0	0	0.004672	0	0
KMT2C	58508	broad.mit.edu	37	7	151900145	151900145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:151900145C>T	ENST00000355193.2	-	26	4184	c.3966G>A	c.(3964-3966)tgG>tgA	p.W1322*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.W1322*					lysine (K)-specific methyltransferase 2C																		ACTGCTCACTCCAGCCTGAAA	0.328000													5	17					0	0	0.003080	0	0
EXOC6B	23233	broad.mit.edu	37	2	72945272	72945272	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:72945272C>T	ENST00000272427.6	-	6	759	c.629G>A	c.(628-630)cGc>cAc	p.R210H	EXOC6B_ENST00000410104.1_Missense_Mutation_p.R210H	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	210					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TGAATGTTTGCGGATGCTCTC	0.423000													4	66					0	0	0.009096	0	0
CTR9	9646	broad.mit.edu	37	11	10794110	10794110	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:10794110C>T	ENST00000361367.2	+	20	2914	c.2488C>T	c.(2488-2490)Cgg>Tgg	p.R830W		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	830					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CCATGTGGCCCGGGCACGCAA	0.453000													14	42					0	0	0.003163	0	0
DSCAM	1826	broad.mit.edu	37	21	41414523	41414523	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr21:41414523C>T	ENST00000400454.1	-	32	5938	c.5461G>A	c.(5461-5463)Gcc>Acc	p.A1821T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1821					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCATCTTGGCGTGTTCGTAG	0.517000													13	50					0	0	0.013537	0	0
SUN2	25777	broad.mit.edu	37	22	39138356	39138356	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr22:39138356C>A	ENST00000405510.1	-	10	1376	c.1018G>T	c.(1018-1020)Gaa>Taa	p.E340*	RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000406622.1_Nonsense_Mutation_p.E340*|SUN2_ENST00000411587.2_Nonsense_Mutation_p.E329*|SUN2_ENST00000405018.1_Nonsense_Mutation_p.E361*|SUN2_ENST00000216064.4_Nonsense_Mutation_p.E340*	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	340					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						AGGGCAGCTTCACGGCGGCTC	0.642000													5	36					0.000157383	0.000166127	0.003080	1	0
SPTB	6710	broad.mit.edu	37	14	65262207	65262207	+	Missense_Mutation	SNP	G	G	A	rs144624027		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr14:65262207G>A	ENST00000389722.3	-	11	1545	c.1492C>T	c.(1492-1494)Cgc>Tgc	p.R498C	SPTB_ENST00000556626.1_Missense_Mutation_p.R498C|SPTB_ENST00000389720.3_Missense_Mutation_p.R498C|SPTB_ENST00000389721.5_Missense_Mutation_p.R498C|SPTB_ENST00000542895.1_Missense_Mutation_p.R498C	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	498					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCGTGATGCGCTTCTGGTCA	0.627000													16	49					0	0	0.006122	0	0
ZNF557	79230	broad.mit.edu	37	19	7076392	7076392	+	Splice_Site	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr19:7076392G>A	ENST00000414706.1	+	5	594	c.120_splice	c.e5-1	p.G41_splice	ZNF557_ENST00000252840.6_Splice_Site_p.G41_splice|ZNF557_ENST00000439035.2_Splice_Site_p.G34_splice	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		AATGCTTTAGGGCTTGGTGAC	0.582000													13	64					0	0	0.013537	0	0
SPG7	6687	broad.mit.edu	37	16	89619531	89619531	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr16:89619531G>A	ENST00000268704.2	+	14	1939	c.1924G>A	c.(1924-1926)Gag>Aag	p.E642K		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	642					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GTCCTTCAACGAGGTCACTTC	0.602000													3	10					0	0	0.004672	0	0
CLSTN2	64084	broad.mit.edu	37	3	140284985	140284985	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:140284985G>A	ENST00000458420.3	+	17	2948	c.2758G>A	c.(2758-2760)Gac>Aac	p.D920N		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	920	Glu-rich (highly acidic).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CAGTGGCTCTGACGACAGCGA	0.572000										HNSCC(16;0.037)			22	13					0	0	0.012319	0	0
ASPM	259266	broad.mit.edu	37	1	197060123	197060123	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:197060123G>C	ENST00000367409.4	-	23	9749	c.9493C>G	c.(9493-9495)Cat>Gat	p.H3165D	ASPM_ENST00000294732.7_Missense_Mutation_p.H1580D|ASPM_ENST00000367408.1_Missense_Mutation_p.H830D	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3165					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGATGCTATGATATTTCTGA	0.353000													9	58					0	0	0.006214	0	0
CSMD3	114788	broad.mit.edu	37	8	113326672	113326672	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr8:113326672A>C	ENST00000297405.5	-	48	7779	c.7535T>G	c.(7534-7536)cTt>cGt	p.L2512R	CSMD3_ENST00000343508.3_Missense_Mutation_p.L2472R|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2408R|CSMD3_ENST00000352409.3_Missense_Mutation_p.L2442R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2512	CUB 14.					integral to membrane|plasma membrane		p.L2512H(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATACACCTGAAGAACATCAAA	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	53					0	0	0.010729	0	0
ZNF12	7559	broad.mit.edu	37	7	6731675	6731675	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:6731675T>A	ENST00000405858.1	-	5	1439	c.898A>T	c.(898-900)Aat>Tat	p.N300Y	ZNF12_ENST00000342651.5_Missense_Mutation_p.N262Y|ZNF12_ENST00000404360.1_Missense_Mutation_p.N226Y|AC073343.2_ENST00000577401.1_RNA|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	300					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CCACACTGATTACATTCGTAA	0.423000													10	60					0	0	0.013537	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15115633	15115633	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:15115633C>G	ENST00000253699.3	-	14	2624	c.2011G>C	c.(2011-2013)Gag>Cag	p.E671Q	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.E671Q	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	671	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.|Poly-Glu.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						ACTGCTTCCTCCTCCTCGTCC	0.567000													4	138					0	0	0.009096	0	0
CNTN1	1272	broad.mit.edu	37	12	41352971	41352971	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:41352971G>A	ENST00000551295.2	+	15	1856	c.1739G>A	c.(1738-1740)aGa>aAa	p.R580K	CNTN1_ENST00000360099.3_Missense_Mutation_p.R580K|CNTN1_ENST00000547849.1_Missense_Mutation_p.R580K|CNTN1_ENST00000547702.1_Missense_Mutation_p.R580K|CNTN1_ENST00000347616.1_Missense_Mutation_p.R580K|CNTN1_ENST00000348761.2_Missense_Mutation_p.R569K	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	580	Ig-like C2-type 6.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CATGCTGGAAGATACACATGC	0.388000													13	53					0	0	0.020292	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99219092	99219092	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr7:99219092G>A	ENST00000394152.2	+	5	811	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.E162K|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.E162K	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		GGTCAAGCCTGAATGGGGGAT	0.617000													17	100					0	0	0.004990	0	0
FAM134A	79137	broad.mit.edu	37	2	220046144	220046144	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr2:220046144G>A	ENST00000430297.2	+	7	974	c.838G>A	c.(838-840)Gag>Aag	p.E280K		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	280						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCAGAGACAGAGAGTGAAAG	0.532000													14	24					0	0	0.020292	0	0
ECHDC2	55268	broad.mit.edu	37	1	53370495	53370495	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:53370495C>T	ENST00000536120.1	-	10	1204	c.387G>A	c.(385-387)caG>caA	p.Q129Q	ECHDC2_ENST00000358358.5_Silent_p.Q144Q|ECHDC2_ENST00000371522.4_Silent_p.Q175Q			Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	175					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						GGGGCAGCCTCTGAGTCCCTC	0.622000													9	26					0	0	0.006214	0	0
IGSF10	285313	broad.mit.edu	37	3	151167020	151167020	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr3:151167020G>C	ENST00000282466.3	-	4	748	c.749C>G	c.(748-750)tCt>tGt	p.S250C		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	250	LRRCT.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGAGCACTAGAGGGACTTCT	0.408000													15	109					0	0	0.004007	0	0
MYH1	4619	broad.mit.edu	37	17	10408181	10408181	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:10408181T>G	ENST00000226207.5	-	22	2731	c.2637A>C	c.(2635-2637)gaA>gaC	p.E879D	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	879						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TAACCATTTTTTCTTCCAGCT	0.423000													13	54					0	0	0.016723	0	0
COL4A5	1287	broad.mit.edu	37	X	107834353	107834353	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chrX:107834353G>A	ENST00000328300.6	+	20	1475	c.1231G>A	c.(1231-1233)Gaa>Aaa	p.E411K	COL4A5_ENST00000361603.2_Missense_Mutation_p.E411K	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	411	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GAAAGGTGATGAAGGACCACC	0.547000									Alport syndrome with Diffuse Leiomyomatosis				30	61					0	0	0.007291	0	0
PFKFB3	5209	broad.mit.edu	37	10	6257227	6257227	+	Silent	SNP	C	C	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:6257227C>T	ENST00000379775.4	+	3	576	c.246C>T	c.(244-246)taC>taT	p.Y82Y	PFKFB3_ENST00000379785.1_Silent_p.Y82Y|PFKFB3_ENST00000379789.4_Silent_p.Y62Y|PFKFB3_ENST00000379782.3_Silent_p.Y82Y|PFKFB3_ENST00000536985.1_Silent_p.Y62Y|PFKFB3_ENST00000317350.4_Silent_p.Y82Y|PFKFB3_ENST00000360521.2_Silent_p.Y82Y|PFKFB3_ENST00000540253.1_Silent_p.Y96Y	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	82	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TGAAGCAGTACAGCTCCTACA	0.592000													7	17					0	0	0.003080	0	0
DIP2B	57609	broad.mit.edu	37	12	51108292	51108292	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:51108292C>G	ENST00000301180.5	+	23	2798	c.2764C>G	c.(2764-2766)Ctg>Gtg	p.L922V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	922						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						ACAACTCTTTCTGGAGGGATC	0.473000													15	64					0	0	0.003163	0	0
MIA3	375056	broad.mit.edu	37	1	222832101	222832101	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:222832101G>C	ENST00000344922.5	+	19	4670	c.4645G>C	c.(4645-4647)Gag>Cag	p.E1549Q	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.E427Q|MIA3_ENST00000344441.6_Missense_Mutation_p.E1549Q	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1549					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GCAAGAAAGAGAGCACAGGCT	0.423000													3	186					0	0	0.009096	0	0
SLAMF7	57823	broad.mit.edu	37	1	160709097	160709098	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr1:160709097_160709098insG	ENST00000368043.3	+	1	43_44	c.6_7insG	c.(4-9)gcgttcfs	p.F3fs	SLAMF7_ENST00000488819.1_3'UTR|SLAMF7_ENST00000368042.3_Frame_Shift_Ins_p.F3fs|SLAMF7_ENST00000441662.2_Frame_Shift_Ins_p.F3fs|SLAMF7_ENST00000458602.2_Frame_Shift_Ins_p.F3fs|SLAMF7_ENST00000444090.2_Frame_Shift_Ins_p.F3fs|SLAMF7_ENST00000458104.2_Frame_Shift_Ins_p.F3fs|SLAMF7_ENST00000359331.4_Frame_Shift_Ins_p.F3fs	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	3					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GCAATATGGCTGGTTCCCCAAC	0.505													19	76	---	---	---	---					
COL17A1	1308	broad.mit.edu	37	10	105819448	105819448	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr10:105819448delT	ENST00000353479.5	-	15	1460	c.1170delA	c.(1168-1170)aafs	p.K390fs	COL17A1_ENST00000393211.3_Frame_Shift_Del_p.K390fs|COL17A1_ENST00000369733.3_Frame_Shift_Del_p.K390fs	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	390	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CTTGCTTTTCTTTTTTTAGGG	0.443													51	73	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763		TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)del	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713													9	32	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316387	12316389	+	In_Frame_Del	DEL	CTA	CTA	-	rs3812754	byFrequency	TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr11:12316387_12316389delCTA	ENST00000256186.2	+	3	1700_1702	c.1409_1411delCTA	c.(1408-1413)cca>c	p.PT470del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctACAGCGGGAGG	0.576													6	2	---	---	---	---					
OR6C65	403282	broad.mit.edu	37	12	55794772	55794773	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr12:55794772_55794773insT	ENST00000379665.2	+	1	559_560	c.460_461insT	c.(460-462)tttfs	p.F154fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTTTCTCATTATTTTTCCCCCC	0.436													7	169	---	---	---	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929	by1000genomes	TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgt>cg	p.RPLCCQTTCHPSCGMSSCCR85del				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10).			keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													33	26	---	---	---	---					
KRT17	3872	broad.mit.edu	37	17	39780391	39780392	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr17:39780391_39780392insC	ENST00000311208.8	-	1	437_438	c.370_371insG	c.(370-372)cccfs	p.P124fs	JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	124	Linker 1.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGGCCCCGGGGCCTGCCTCTGG	0.639													9	173	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-6013-01A-11D-1683-08	TCGA-CN-6013-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	992de9b5-c394-48e7-b4e3-4c4aeacb4a23	9496355f-6aa6-4f6a-ac06-b17966b4208c	g.chr20:56099187delT	ENST00000426658.2	-	1	736	c.75delA	c.(73-75)aafs	p.K25fs	CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													7	445	---	---	---	---