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
OR2M2	391194	broad.mit.edu	37	1	248344044	248344044	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:248344044G>T	ENST00000359682.2	+	1	757	c.757G>T	c.(757-759)Gga>Tga	p.G253*		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G253L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AATGTACTATGGAGCAGCTTT	0.498000													42	159					1.57945e-13	2.45751e-13	1	1	0
JAKMIP2	9832	broad.mit.edu	37	5	147027966	147027966	+	Silent	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr5:147027966G>T	ENST00000265272.5	-	5	1376	c.909C>A	c.(907-909)acC>acA	p.T303T	JAKMIP2_ENST00000507386.1_Silent_p.T303T|JAKMIP2_ENST00000333010.6_Silent_p.T261T	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	303						Golgi apparatus		p.T303T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAAGCAAGGTATTCCTGT	0.299000													23	80					2.98393e-07	3.92055e-07	1	1	0
GC	2638	broad.mit.edu	37	4	72623793	72623793	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:72623793C>T	ENST00000273951.8	-	7	1140	c.797G>A	c.(796-798)tGt>tAt	p.C266Y	GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.C266Y|GC_ENST00000504199.1_Missense_Mutation_p.C285Y	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	266	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	p.C285Y(1)|p.C266Y(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GGCAGACTCACAGCATTTGGA	0.428000													29	64					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77284872	77284872	+	Silent	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chrX:77284872G>T	ENST00000341514.6	+	15	3197	c.3042G>T	c.(3040-3042)gtG>gtT	p.V1014V	ATP7A_ENST00000343533.5_Silent_p.V936V|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1014					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.V1014V(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CTGTGATGGTGGGTACAGGAG	0.463000													54	36					3.07661e-12	4.69431e-12	1	1	0
SON	6651	broad.mit.edu	37	21	34931573	34931573	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr21:34931573A>T	ENST00000356577.4	+	5	6834	c.6359A>T	c.(6358-6360)gAt>gTt	p.D2120V	SON_ENST00000300278.4_Missense_Mutation_p.D2120V|SON_ENST00000381692.2_Missense_Mutation_p.D148V|SON_ENST00000290239.6_Missense_Mutation_p.D2120V	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	2120					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.D2120V(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GAAGATGATGATGTAATAGTG	0.308000													27	40					0	0	1	0	0
ALG9	79796	broad.mit.edu	37	11	111657158	111657158	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:111657158C>A	ENST00000398006.2	-	15	2194	c.1286G>T	c.(1285-1287)cGg>cTg	p.R429L	ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000531154.1_Missense_Mutation_p.R436L|ALG9_ENST00000527228.1_5'UTR	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	600					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	p.R436L(1)|p.R833L(1)|p.R832L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		CTTTGCTTTCCGGGGTTTGAG	0.463000													40	82					4.01765e-15	6.59844e-15	1	1	0
WNT8A	7478	broad.mit.edu	37	5	137424664	137424664	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr5:137424664G>T	ENST00000506684.1	+	4	706	c.470G>T	c.(469-471)gGg>gTg	p.G157V	WNT8A_ENST00000398754.1_Missense_Mutation_p.G139V			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	139					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.G139V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTGGAATTTGGGGAAAGGATC	0.527000													10	46					3.86212e-05	4.61309e-05	1	1	0
TSHZ1	10194	broad.mit.edu	37	18	72999000	72999000	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr18:72999000G>C	ENST00000322038.5	+	2	2087	c.1503G>C	c.(1501-1503)aaG>aaC	p.K501N	TSHZ1_ENST00000580243.1_Missense_Mutation_p.K546N	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	546						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K501N(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACAGCCCCAAGGGAGGGCTGG	0.587000													92	99					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42797203	42797203	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:42797203G>T	ENST00000572681.2	+	16	6354	c.6286G>T	c.(6286-6288)Gtg>Ttg	p.V2096L	CIC_ENST00000575354.2_Missense_Mutation_p.V1189L|CIC_ENST00000160740.3_Missense_Mutation_p.V1187L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.V1189L(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGCATTCCCGTGGGGTCCTT	0.672000			"""Mis, F, S"""		oligodendroglioma								9	5					0.000274275	0.000314121	1	1	0
DSCAM	1826	broad.mit.edu	37	21	42064832	42064832	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr21:42064832C>A	ENST00000400454.1	-	3	889	c.412G>T	c.(412-414)Ggc>Tgc	p.G138C		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	138	Ig-like C2-type 2.				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	p.G138C(1)		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)				GCAACATTGCCTCTCATGGTT	0.517000													19	20					3.62473e-10	5.30804e-10	1	1	0
VCAN	1462	broad.mit.edu	37	5	82868259	82868259	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr5:82868259C>A	ENST00000265077.3	+	13	10325	c.9760C>A	c.(9760-9762)Cag>Aag	p.Q3254K	VCAN_ENST00000343200.5_Missense_Mutation_p.Q2267K|VCAN_ENST00000502527.2_Missense_Mutation_p.Q513K|VCAN_ENST00000512590.2_Missense_Mutation_p.Q1452K|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Missense_Mutation_p.Q1500K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3254	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.Q3254K(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAGACCCAACCAGCCAGACAG	0.428000													13	72					0.000151284	0.000177123	1	1	0
ZEB1	6935	broad.mit.edu	37	10	31809063	31809063	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr10:31809063C>A	ENST00000446923.2	+	7	1143	c.752C>A	c.(751-753)cCa>cAa	p.P251Q	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.P200Q|ZEB1_ENST00000361642.5_Missense_Mutation_p.P268Q|ZEB1_ENST00000560721.2_Missense_Mutation_p.P247Q|ZEB1_ENST00000320985.10_Missense_Mutation_p.P267Q	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	267					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.P267Q(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GGAGAGAAGCCATATGAATGC	0.348000													10	22					0.000673444	0.000754832	1	1	0
HNF4A	3172	broad.mit.edu	37	20	43043227	43043227	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr20:43043227G>A	ENST00000316099.3	+	5	662	c.573G>A	c.(571-573)atG>atA	p.M191I	HNF4A_ENST00000457232.1_Missense_Mutation_p.M169I|HNF4A_ENST00000443598.2_Missense_Mutation_p.M191I|HNF4A_ENST00000415691.1_Missense_Mutation_p.M191I	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	191					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.M191I(2)|p.M169I(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GTGAGTCCATGAAGGAGCAGC	0.592000													6	25					0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180135707	180135707	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:180135707C>T	ENST00000367602.3	+	2	421	c.347C>T	c.(346-348)cCt>cTt	p.P116L	QSOX1_ENST00000367600.5_Missense_Mutation_p.P116L			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	116	Thioredoxin.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	p.P116L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTCAACATCCCTGGCTTCCCG	0.572000													15	45					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31632903	31632903	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:31632903C>A	ENST00000389082.5	-	3	788	c.524G>T	c.(523-525)cGa>cTa	p.R175L	DENND5B_ENST00000536562.1_Missense_Mutation_p.R210L|DENND5B_ENST00000306833.6_Missense_Mutation_p.R210L|DENND5B_ENST00000354285.4_Missense_Mutation_p.R197L|DENND5B_ENST00000545147.1_Intron	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	175						integral to membrane		p.R175L(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGAGTTGTATCGCTGGAGTTT	0.418000													28	70					8.88839e-20	1.5925e-19	1	1	0
RNF213	57674	broad.mit.edu	37	17	78327866	78327866	+	Silent	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:78327866C>T	ENST00000582970.1	+	35	10769	c.10626C>T	c.(10624-10626)agC>agT	p.S3542S	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Silent_p.S1615S|RNF213_ENST00000508628.2_Silent_p.S3591S	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.S1615S(1)|p.S3591S(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGTGCAGAGCGCCGTGGGCA	0.607000													5	26					0	0	1	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967514	142967514	+	Silent	SNP	A	A	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chrX:142967514A>T	ENST00000370494.1	+	1	342	c.312A>T	c.(310-312)acA>acT	p.T104T		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	104							acid-amino acid ligase activity	p.V105L(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AGATCCGCACAGTTCTGCTAT	0.428000													19	31					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140401536	140401536	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr3:140401536G>T	ENST00000286349.3	+	2	765	c.574G>T	c.(574-576)Gac>Tac	p.D192Y		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	192						intracellular	zinc ion binding	p.D192Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCCAGTGTGCGACCGCTCGCA	0.617000													17	87					5.03518e-11	7.51307e-11	1	1	0
ASTN2	23245	broad.mit.edu	37	9	119770435	119770435	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr9:119770435C>A	ENST00000313400.4	-	7	1627	c.1527G>T	c.(1525-1527)tgG>tgT	p.W509C	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.W458C|ASTN2_ENST00000373996.3_Missense_Mutation_p.W509C			O75129	ASTN2_HUMAN	astrotactin 2	509						integral to membrane		p.W458F(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGTCCCTCACCCATGGGGAGG	0.582000													15	12					0.00741294	0.00798706	1	1	0
PCDHB14	56122	broad.mit.edu	37	5	140605248	140605248	+	Missense_Mutation	SNP	G	G	A	rs142658705		TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr5:140605248G>A	ENST00000239449.4	+	1	2171	c.2171G>A	c.(2170-2172)cGc>cAc	p.R724H	PCDHB14_ENST00000515856.2_Missense_Mutation_p.R571H	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		724					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.R724H(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGGGTCGCTGCTCGGTG	0.662000													37	110					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080398	194080398	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr3:194080398C>T	ENST00000347624.3	-	2	1460	c.1375G>A	c.(1375-1377)Gtc>Atc	p.V459I	LRRC15_ENST00000439944.2_Missense_Mutation_p.V465I|LRRC15_ENST00000428839.1_Missense_Mutation_p.V465I	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	459	LRRCT.					integral to membrane		p.V459I(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TGGCCTCGGACATTGGCTGGG	0.552000													3	12					0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52819189	52819189	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:52819189G>T	ENST00000595962.1	+	4	368	c.302G>T	c.(301-303)aGg>aTg	p.R101M	ZNF480_ENST00000490272.1_Intron|ZNF480_ENST00000335090.6_Missense_Mutation_p.R24M|ZNF480_ENST00000334564.7_Intron|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.R101M(1)|p.R82M(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TCAGATGGGAGGGAGTGCATC	0.438000													5	19					0.000602214	0.000679827	1	1	0
SBK1	388228	broad.mit.edu	37	16	28331793	28331793	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr16:28331793G>C	ENST00000341901.4	+	4	1615	c.826G>C	c.(826-828)Ggg>Cgg	p.G276R		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	276	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity	p.G276A(1)|p.G276R(1)		kidney(1)|lung(3)|ovary(1)	5						CCGCCTGCCGGGGCTGCCTTC	0.726000													11	17					0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15103770	15103770	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr10:15103770C>A	ENST00000378217.3	+	5	557	c.370C>A	c.(370-372)Ctt>Att	p.L124I	OLAH_ENST00000378228.3_Missense_Mutation_p.L71I	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	71					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	p.L124I(1)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TGAAGAACCTCTTGAAAATGA	0.428000													25	75					7.07758e-08	9.59225e-08	1	1	0
RABGAP1L	9910	broad.mit.edu	37	1	174606543	174606543	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:174606543G>C	ENST00000251507.4	+	14	1915	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H		NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	581	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	p.D581H(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TATTACTCGAGATATTCATCG	0.363000													16	45					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176323160	176323160	+	Translation_Start_Site	SNP	T	T	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr5:176323160T>C	ENST00000292432.5	-	2	92	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	1	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.M1V(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGGAGTCCATGAGCTTCCAC	0.562000													7	23					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105405220	105405220	+	Splice_Site	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:105405220C>A	ENST00000351513.2	-	8	1368		c.e8-1		DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase						protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.?(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGAGATAGTCCTATATTTGTG	0.368000													19	80					3.32936e-07	4.35024e-07	1	1	0
SIRT6	51548	broad.mit.edu	37	19	4180786	4180786	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:4180786C>A	ENST00000337491.2	-	2	251	c.187G>T	c.(187-189)Gac>Tac	p.D63Y	SIRT6_ENST00000305232.6_Missense_Mutation_p.D63Y|SIRT6_ENST00000381935.3_Intron|SIRT6_ENST00000601488.1_Missense_Mutation_p.D63Y|SIRT6_ENST00000594279.1_5'UTR	NM_016539.2	NP_057623.2	Q8N6T7	SIRT6_HUMAN	sirtuin 6	63	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding	p.D63Y(1)		central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCTGAAGTCGGGGATGCCA	0.612000													8	14					0.0477658	0.0496554	1	1	0
VGF	7425	broad.mit.edu	37	7	100806508	100806508	+	Silent	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr7:100806508C>T	ENST00000249330.2	-	2	1856	c.1617G>A	c.(1615-1617)ccG>ccA	p.P539P	VGF_ENST00000445482.2_Silent_p.P539P	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	539					response to cAMP	extracellular space|transport vesicle	growth factor activity	p.P539P(1)		cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					ACGGCCCTGGCGGGTACACCT	0.736000													10	10					0	0	1	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084251	26084251	+	RNA	SNP	C	C	A	rs61752036	by1000genomes	TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr20:26084251C>A	ENST00000478176.1	-	0	206					NR_003678.1																						CATCTCCACACGGTTGCCCCA	0.388000													9	37					3.07112e-06	3.84296e-06	1	1	0
MBNL2	10150	broad.mit.edu	37	13	97928509	97928509	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr13:97928509C>T	ENST00000345429.6	+	2	801	c.20C>T	c.(19-21)cCa>cTa	p.P7L	MBNL2_ENST00000445661.2_Missense_Mutation_p.P7L|MBNL2_ENST00000376673.3_Missense_Mutation_p.P7L|MBNL2_ENST00000343600.4_Missense_Mutation_p.P7L|MBNL2_ENST00000397601.1_Missense_Mutation_p.P7L	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	7					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding	p.P7L(2)		endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AACGTTGCCCCAGTCAGAGAT	0.403000													25	32					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222798126	222798126	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:222798126G>A	ENST00000344922.5	+	3	309	c.284G>A	c.(283-285)gGa>gAa	p.G95E	MIA3_ENST00000344507.1_Missense_Mutation_p.G95E|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.G95E	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	95	SH3.				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	p.G95E(1)		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)		CGCACTTTTGGATATTTTCCA	0.368000													9	31					0	0	1	0	0
NAIF1	203245	broad.mit.edu	37	9	130829282	130829282	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr9:130829282G>C	ENST00000373078.4	-	1	318	c.99C>G	c.(97-99)aaC>aaG	p.N33K		NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	33	Required for nuclear localization and apoptosis-inducing activity.				apoptosis|induction of apoptosis	nucleus		p.N33K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGTTGAAGTGGTTCACCAGCA	0.627000													22	102					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91312742	91312742	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr15:91312742G>A	ENST00000355112.3	+	12	2599	c.2481G>A	c.(2479-2481)atG>atA	p.M827I	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.M827I	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	827	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	p.M827I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TTCCGGTGATGGCTCTTACGG	0.438000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				12	48					0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224462250	224462250	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:224462250T>C	ENST00000305409.2	-	2	1983	c.1751A>G	c.(1750-1752)tAc>tGc	p.Y584C		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	584					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.Y584C(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTCATCCCAGTACTGCCTATT	0.478000													34	58					0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173355838	173355838	+	Silent	SNP	A	A	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:173355838A>G	ENST00000375221.2	+	22	3086	c.2883A>G	c.(2881-2883)aaA>aaG	p.K961K	ITGA6_ENST00000264106.6_Silent_p.K961K|ITGA6_ENST00000343713.4_Silent_p.K917K|ITGA6_ENST00000264107.7_Silent_p.K922K|ITGA6_ENST00000409080.1_Silent_p.K922K|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Silent_p.K803K			P23229	ITA6_HUMAN	integrin, alpha 6	961					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	p.K922K(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CTGAAAGAAAATACCAGACTC	0.318000													37	151					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73185608	73185608	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:73185608G>A	ENST00000286657.4	-	8	1211	c.1175C>T	c.(1174-1176)tCt>tTt	p.S392F		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	392	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.S392F(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TACAAAAGCAGATGAAAAACC	0.408000													20	20					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26508188	26508188	+	Silent	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:26508188G>C	ENST00000244513.6	+	5	936	c.870G>C	c.(868-870)ctG>ctC	p.L290L		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	290	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity	p.L290L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGAGACTCCTGGAAGAACTCA	0.393000													29	103					0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129246011	129246011	+	Silent	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:129246011C>T	ENST00000281437.4	+	1	177	c.81C>T	c.(79-81)atC>atT	p.I27I		NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	27								p.I27I(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CTTTCATGATCGACGAGATCC	0.617000											OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	88					0	0	1	0	0
AIFM2	84883	broad.mit.edu	37	10	71880924	71880924	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr10:71880924C>A	ENST00000307864.1	-	4	551	c.338G>T	c.(337-339)gGg>gTg	p.G113V	AIFM2_ENST00000373248.1_Missense_Mutation_p.G113V	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	113					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding	p.G113V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CGGGAAGGGCCCAGTGCTGCC	0.512000													8	29					0.000274275	0.000314121	1	1	0
CRTAP	10491	broad.mit.edu	37	3	33155722	33155722	+	Silent	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr3:33155722G>C	ENST00000320954.6	+	1	252	c.153G>C	c.(151-153)gcG>gcC	p.A51A	CRTAP_ENST00000449224.1_Silent_p.A51A	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	51						proteinaceous extracellular matrix	binding	p.A51A(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						ACCGGCACGCGCTGGACAAGT	0.701000													2	3					0	0	1	0	0
GPR101	83550	broad.mit.edu	37	X	136113699	136113699	+	Silent	SNP	A	A	C	rs150806941	byFrequency	TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chrX:136113699A>C	ENST00000298110.1	-	1	134	c.135T>G	c.(133-135)tcT>tcG	p.S45S		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	45						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S45S(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TGCCGACGAAAGAGGCGGCGA	0.587000													13	32					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28467327	28467327	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr15:28467327A>C	ENST00000261609.7	-	36	5607	c.5499T>G	c.(5497-5499)aaT>aaG	p.N1833K		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1833					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.N1833K(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAGCAGAAGCATTCATATCTT	0.488000													7	20					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222651	140222651	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr5:140222651C>A	ENST00000531613.1	+	1	1745	c.1745C>A	c.(1744-1746)cCg>cAg	p.P582Q	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P582Q|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018911.2	NP_061734.1												p.P582Q(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTGGTGCCGCGGTCTGTG	0.677000													12	53					0.00136819	0.00151205	1	1	0
KIR3DL1	3811	broad.mit.edu	37	19	55341568	55341568	+	Silent	SNP	A	A	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:55341568A>G	ENST00000391728.4	+	9	1206	c.1173A>G	c.(1171-1173)caA>caG	p.Q391Q	KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Silent_p.Q374Q|KIR3DL1_ENST00000538269.1_Silent_p.Q391Q|KIR3DL1_ENST00000326542.7_Silent_p.Q374Q|KIR3DL1_ENST00000358178.4_Silent_p.Q296Q	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.Q391Q(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTGATGAACAAGACCCTGAGG	0.512000													32	182					0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31751320	31751320	+	RNA	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:31751320C>G	ENST00000405650.1	-	0	876							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	CCTCAAACATCTTGAGGTAGA	0.388000													3	3					0	0	1	0	0
MIR523	574471	broad.mit.edu	37	19	54201697	54201697	+	RNA	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:54201697G>A	ENST00000385281.1	+	0	59					NR_030193.1																						AAAAGAACGCGCTTCCCTATA	0.443000													6	37					0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301960	11301960	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr3:11301960G>T	ENST00000397056.1	+	3	1428	c.1237G>T	c.(1237-1239)Gcc>Tcc	p.A413S	HRH1_ENST00000438284.2_Missense_Mutation_p.A413S|HRH1_ENST00000431010.2_Missense_Mutation_p.A413S	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	413					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	p.A413S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CGAAAGGAAGGCCGCCAAACA	0.473000													33	87					1.56442e-22	2.87926e-22	1	1	0
REG3A	5068	broad.mit.edu	37	2	79386527	79386527	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:79386527A>G	ENST00000393878.1	-	1	259	c.5T>C	c.(4-6)cTg>cCg	p.L2P	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.L2P|REG3A_ENST00000409839.3_Missense_Mutation_p.L2P	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	2					acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.L2P(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CATGGGAGGCAGCATAGTGTC	0.527000													7	27					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40657160	40657160	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:40657160G>T	ENST00000406785.1	-	2	450	c.261C>A	c.(259-261)taC>taA	p.Y87*	SLC8A1_ENST00000332839.4_Nonsense_Mutation_p.Y87*|SLC8A1_ENST00000408028.2_Nonsense_Mutation_p.Y87*|SLC8A1_ENST00000542756.1_Nonsense_Mutation_p.Y87*|SLC8A1_ENST00000542024.1_Nonsense_Mutation_p.Y87*|SLC8A1_ENST00000402441.1_Nonsense_Mutation_p.Y87*|SLC8A1_ENST00000406391.2_Nonsense_Mutation_p.Y87*|SLC8A1_ENST00000405901.3_Nonsense_Mutation_p.Y87*|SLC8A1_ENST00000405269.1_Nonsense_Mutation_p.Y87*|SLC8A1_ENST00000403092.1_Nonsense_Mutation_p.Y87*			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	87					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.Y87*(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAAGAAACATGTAGACCATGG	0.413000													28	38					9.39395e-14	1.48607e-13	1	1	0
F13B	2165	broad.mit.edu	37	1	197021812	197021812	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:197021812C>A	ENST00000367412.1	-	9	1550	c.1507G>T	c.(1507-1509)Gtg>Ttg	p.V503L		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	503	Sushi 8.				blood coagulation	extracellular region		p.V503L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTGCACTGCACAGATAATTCA	0.338000													22	33					1.96895e-08	2.7152e-08	1	1	0
FAM47B	170062	broad.mit.edu	37	X	34961518	34961518	+	Silent	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chrX:34961518G>T	ENST00000329357.5	+	1	606	c.570G>T	c.(568-570)cgG>cgT	p.R190R		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	190	Pro-rich.							p.R190R(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCTGCCCGCGGCCTCCCGAGA	0.647000													10	10					1.58986e-06	2.01071e-06	1	1	0
TRIM42	287015	broad.mit.edu	37	3	140401341	140401341	+	Missense_Mutation	SNP	C	C	A	rs149207203	byFrequency	TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr3:140401341C>A	ENST00000286349.3	+	2	570	c.379C>A	c.(379-381)Cag>Aag	p.Q127K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	127						intracellular	zinc ion binding	p.Q127K(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAGCGATACCCAGGTGGATGA	0.562000													6	54					0.00198382	0.00216708	1	1	0
RGCC	28984	broad.mit.edu	37	13	42042950	42042950	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr13:42042950G>T	ENST00000379359.3	+	4	531	c.382G>T	c.(382-384)Gct>Tct	p.A128S	RGCC_ENST00000487837.1_3'UTR	NM_014059.2	NP_054778.2	Q9H4X1	RGC32_HUMAN	regulator of cell cycle	128					cell cycle|regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus		p.A128S(1)									AGCCTTCATTGCTGATCTTGA	0.353000													10	13					2.17888e-05	2.62241e-05	1	1	0
ABCC12	94160	broad.mit.edu	37	16	48121986	48121986	+	Silent	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr16:48121986C>T	ENST00000311303.3	-	25	3831	c.3486G>A	c.(3484-3486)tcG>tcA	p.S1162S	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1162	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.S1162S(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCATTCCTAACGATGACTTTC	0.413000													4	14					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346872	71346872	+	Silent	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:71346872C>A	ENST00000413702.1	+	4	699	c.411C>A	c.(409-411)acC>acA	p.T137T	MUC7_ENST00000456088.1_Silent_p.T137T|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Silent_p.T137T	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	137	Thr-rich.					extracellular region	protein binding	p.T137T(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGAATGCCACCACCATATCTT	0.463000													23	72					1.96895e-08	2.7152e-08	1	1	0
DST	667	broad.mit.edu	37	6	56472672	56472672	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:56472672C>A	ENST00000370754.5	-	39	6654	c.6655G>T	c.(6655-6657)Gat>Tat	p.D2219Y	DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.D2041Y|DST_ENST00000446842.2_Missense_Mutation_p.D1715Y|DST_ENST00000370769.4_Missense_Mutation_p.D2041Y|DST_ENST00000361203.3_Missense_Mutation_p.D2041Y			Q03001	DYST_HUMAN	dystonin	2041					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTAAGACATCGAGACATTCT	0.413000													31	84					1.36615e-20	2.46636e-20	1	1	0
MORF4L1	10933	broad.mit.edu	37	15	79187165	79187165	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr15:79187165G>A	ENST00000331268.5	+	12	1127	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	MORF4L1_ENST00000559345.1_Missense_Mutation_p.R181Q|MORF4L1_ENST00000558746.1_Missense_Mutation_p.R242Q|MORF4L1_ENST00000558502.1_Missense_Mutation_p.R181Q|MORF4L1_ENST00000426013.2_Missense_Mutation_p.R269Q|MORF4L1_ENST00000379535.4_Missense_Mutation_p.R294Q|MORF4L1_ENST00000561171.1_3'UTR	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	308	Sufficient for interaction with PHF12.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	p.R308Q(1)		breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TAAACAGTACGAATTGGAGCA	0.368000													9	36					0	0	1	0	0
ANXA13	312	broad.mit.edu	37	8	124748012	124748012	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:124748012G>T	ENST00000262219.6	-	2	188	c.121C>A	c.(121-123)Cca>Aca	p.P41T	ANXA13_ENST00000419625.1_Intron	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	0					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	p.P41T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			GGGGCCTCTGGCTCTCCATTC	0.557000													17	110					1.67942e-08	2.32951e-08	1	1	0
RNF168	165918	broad.mit.edu	37	3	196210727	196210727	+	Silent	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr3:196210727G>A	ENST00000318037.3	-	4	1188	c.594C>T	c.(592-594)ccC>ccT	p.P198P		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	198					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	p.P198P(1)		NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TGGAATTCAAGGGAGAAGCCG	0.338000													44	78					0	0	1	0	0
SAAL1	113174	broad.mit.edu	37	11	18103004	18103004	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:18103004T>A	ENST00000524803.1	-	11	1335	c.1286A>T	c.(1285-1287)aAg>aTg	p.K429M	SAAL1_ENST00000300013.4_Missense_Mutation_p.K428M|SAAL1_ENST00000529318.1_Missense_Mutation_p.K431M			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	429					acute-phase response	extracellular region	binding	p.K429M(1)		breast(2)|large_intestine(5)|lung(8)	15						AGAGGAACACTTCTGTTTGCT	0.383000													29	55					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76794510	76794510	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:76794510G>A	ENST00000312010.6	-	20	3688	c.3364C>T	c.(3364-3366)Cgc>Tgc	p.R1122C	USP36_ENST00000449938.2_Missense_Mutation_p.R727C|USP36_ENST00000542802.2_Missense_Mutation_p.R1122C	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	1120					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R1122C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			AGTCAGCGGCGATAGCTGAGG	0.582000													13	31					0	0	1	0	0
IRX5	10265	broad.mit.edu	37	16	54967483	54967483	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr16:54967483C>G	ENST00000394636.4	+	3	1487	c.1150C>G	c.(1150-1152)Cgc>Ggc	p.R384G	IRX5_ENST00000320990.5_Missense_Mutation_p.R383G|IRX5_ENST00000558597.1_Missense_Mutation_p.R318G|IRX5_ENST00000560154.1_Missense_Mutation_p.R164G			P78411	IRX5_HUMAN	iroquois homeobox 5	384					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	p.R384G(1)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GGCGCCGTCACGCTCGCCCTC	0.716000													6	7					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57762959	57762959	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:57762959G>T	ENST00000269122.3	+	30	4891	c.4617G>T	c.(4615-4617)caG>caT	p.Q1539H	CLTC_ENST00000579456.1_Missense_Mutation_p.Q476H|CLTC_ENST00000393043.1_Missense_Mutation_p.Q1539H	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1539	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	p.Q1539H(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATGCAATGCAGTATGCTTCTG	0.363000			T	"""ALK, TFE3"""	"""ALCL, renal """								13	59					9.31168e-06	1.13809e-05	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134073219	134073219	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:134073219C>G	ENST00000264360.4	+	1	2750	c.1924C>G	c.(1924-1926)Cgc>Ggc	p.R642G		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	642	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R642G(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCGCACAGCACGCCGAGTCCC	0.672000													16	23					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													4	108					0	0	1	0	0
BBS10	79738	broad.mit.edu	37	12	76740229	76740229	+	Silent	SNP	T	T	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:76740229T>C	ENST00000393262.3	-	2	1619	c.1536A>G	c.(1534-1536)acA>acG	p.T512T		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	512					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	p.T512T(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TATCTGTTGGTGTCAGTGTGG	0.333000									Bardet-Biedl syndrome				36	103					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50278530	50278530	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr18:50278530C>A	ENST00000442544.2	+	2	814	c.198C>A	c.(196-198)gaC>gaA	p.D66E		NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	66	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.D66E(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGGAGTCCGACCGAGGAGTTC	0.507000													13	41					4.36969e-10	6.37921e-10	1	1	0
PRR5	55615	broad.mit.edu	37	22	45122459	45122459	+	Silent	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr22:45122459C>T	ENST00000403581.1	+	6	945	c.336C>T	c.(334-336)aaC>aaT	p.N112N	ARHGAP8_ENST00000517296.3_Silent_p.N89N|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000389773.5_Silent_p.N80N|PRR5_ENST00000336985.6_Silent_p.N89N|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.N89N|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.N89N	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)									p.N112N(1)|p.N80N(1)|p.N89N(1)		central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		ACCTTCAGAACCAGCTGCTGA	0.627000													4	24					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74479366	74479366	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:74479366C>A	ENST00000394019.2	-	16	1815	c.1418G>T	c.(1417-1419)gGg>gTg	p.G473V	SLC4A5_ENST00000423644.1_Missense_Mutation_p.G473V|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G473V|SLC4A5_ENST00000377634.4_Missense_Mutation_p.G473V|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G409V|SLC4A5_ENST00000358683.4_Missense_Mutation_p.G409V|SLC4A5_ENST00000357822.5_Missense_Mutation_p.G473V|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G473V|SLC4A5_ENST00000483195.1_5'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	473	Gly-rich.					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.G473V(2)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCCATCATCCCCGCTGCTTGT	0.657000													5	18					0.00116845	0.00130041	1	1	0
EPHA6	285220	broad.mit.edu	37	3	97356925	97356925	+	Splice_Site	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr3:97356925C>G	ENST00000389672.5	+	14	2821	c.2784_splice	c.e14+1	p.T928_splice	EPHA6_ENST00000502694.1_Splice_Site_p.T320_splice|EPHA6_ENST00000514100.1_Splice_Site_p.T320_splice	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	833	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.T320S(1)|p.T834S(1)|p.T928S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TATACAACAACTGTAAGTTTA	0.353000													15	20					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129243809	129243809	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr5:129243809G>T	ENST00000305031.4	+	2	1200	c.842G>T	c.(841-843)aGt>aTt	p.S281I	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	281						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	p.S281I(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CTAAACAGCAGTAAGCCTCTC	0.433000													9	33					0.000673444	0.000754832	1	1	0
AVPR1A	552	broad.mit.edu	37	12	63541201	63541201	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:63541201C>A	ENST00000299178.2	-	2	1300	c.1195G>T	c.(1195-1197)Ggt>Tgt	p.G399C		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	399					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.G399C(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTCCACATACCCGTACTGTTT	0.388000													38	91					6.97489e-18	1.21739e-17	1	1	0
ZMYND10	51364	broad.mit.edu	37	3	50379321	50379321	+	Silent	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr3:50379321G>T	ENST00000231749.3	-	10	2313	c.1041C>A	c.(1039-1041)ggC>ggA	p.G347G	ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000490675.1_5'UTR|ZMYND10_ENST00000360165.3_Silent_p.G342G	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	347						cytoplasm	protein binding|zinc ion binding	p.G347G(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCTGCCACTTGCCTCTGTTTT	0.587000										TSP Lung(30;0.18)			3	25					0.115264	0.118264	1	1	0
RSAD1	55316	broad.mit.edu	37	17	48561096	48561096	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:48561096G>T	ENST00000258955.2	+	7	1167	c.1082G>T	c.(1081-1083)cGc>cTc	p.R361L		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	361					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding	p.R361L(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CTGGGGCTACGCACCGATGTG	0.537000													4	44					0.150653	0.153245	1	1	0
DDX58	23586	broad.mit.edu	37	9	32500900	32500900	+	Translation_Start_Site	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr9:32500900C>A	ENST00000379868.1	-	0	185				DDX58_ENST00000545044.1_De_novo_Start_OutOfFrame|DDX58_ENST00000379882.1_Intron|DDX58_ENST00000542096.1_De_novo_Start_OutOfFrame|DDX58_ENST00000379883.2_Missense_Mutation_p.K48N			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58						detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	p.K48N(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CCATTGGGCCCTTGTTGTTTT	0.448000													10	62					0.0581538	0.0600584	1	1	0
SOWAHB	345079	broad.mit.edu	37	4	77816878	77816878	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:77816878G>A	ENST00000334306.2	-	1	2124	c.2125C>T	c.(2125-2127)Cag>Tag	p.Q709*		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	709								p.Q709*(1)									GTTAGATACTGCCATGGCTTC	0.522000													53	232					0	0	1	0	0
PMS2CL	441194	broad.mit.edu	37	7	6777191	6777191	+	RNA	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr7:6777191C>T	ENST00000486256.1	+	0	1318					NR_002217.1													p.D157D(1)									CTGAAACTGACGACTCTTTTT	0.527000													5	171					0	0	1	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337398	13337398	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chrX:13337398G>T	ENST00000380622.2	-	1	1120	c.656C>A	c.(655-657)tCt>tAt	p.S219Y	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	219					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	p.S219Y(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGATGTTCCAGACTCATCACT	0.378000													115	71					3.46837e-39	6.64186e-39	1	1	0
TIAL1	7073	broad.mit.edu	37	10	121335210	121335210	+	Silent	SNP	G	G	A	rs139964504	byFrequency	TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr10:121335210G>A	ENST00000369092.4	-	13	2034	c.726C>T	c.(724-726)gcC>gcT	p.A242A	TIAL1_ENST00000436547.2_Silent_p.A365A|TIAL1_ENST00000463089.2_5'UTR|TIAL1_ENST00000369093.2_Silent_p.A382A			Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	365	RRM 3.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding	p.A382A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		TACCATATCCGGCTTGGTTAG	0.473000													39	81					0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55411137	55411137	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr14:55411137C>A	ENST00000360586.3	-	25	3167	c.3102G>T	c.(3100-3102)ttG>ttT	p.L1034F	WDHD1_ENST00000359167.4_Missense_Mutation_p.L552F|WDHD1_ENST00000420358.2_Missense_Mutation_p.L911F|WDHD1_ENST00000421192.1_Missense_Mutation_p.L911F	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	1034						cytoplasm|nucleoplasm	DNA binding	p.L1034F(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						GATTGTCAGACAAAATATTAC	0.318000													9	57					0.000274275	0.000314121	1	1	0
TPH2	121278	broad.mit.edu	37	12	72366394	72366394	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:72366394C>A	ENST00000333850.3	+	6	845	c.704C>A	c.(703-705)gCt>gAt	p.A235D		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	235					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.A235D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CCCACTCATGCTTGCCGAGAG	0.463000													100	244					1.92787e-56	3.7526e-56	1	1	0
ASTN1	460	broad.mit.edu	37	1	177001922	177001922	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:177001922G>T	ENST00000367654.2	-	3	548	c.535C>A	c.(535-537)Cgc>Agc	p.R179S	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.R179S|ASTN1_ENST00000367657.3_Missense_Mutation_p.R179S|ASTN1_ENST00000361833.2_Missense_Mutation_p.R179S			O14525	ASTN1_HUMAN	astrotactin 1	179					cell migration|neuron cell-cell adhesion	integral to membrane		p.R179S(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTGCACCAGCGCCGGCGAGTA	0.587000													13	41					4.3838e-07	5.69653e-07	1	1	0
IGHV1-8	28472	broad.mit.edu	37	14	106539105	106539105	+	RNA	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr14:106539105C>T	ENST00000390599.2	-	0	386																											ACGGCCGTGTCCTCAGATCTC	0.542000													28	125					0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8212211	8212211	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:8212211G>T	ENST00000307637.4	-	2	774	c.571C>A	c.(571-573)Cca>Aca	p.P191T		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	191					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	p.P191T(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TTTTCTAGTGGATCTCCATAA	0.408000													34	54					4.11147e-13	6.35532e-13	1	1	0
FLG	2312	broad.mit.edu	37	1	152284709	152284709	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:152284709C>A	ENST00000368799.1	-	3	2688	c.2653G>T	c.(2653-2655)Ggg>Tgg	p.G885W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	885	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G885W(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGACTGCCCACGGGAGGCA	0.567000									Ichthyosis				160	315					2.75477e-106	5.40666e-106	1	1	0
ARAP1	116985	broad.mit.edu	37	11	72421536	72421536	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:72421536C>A	ENST00000359373.5	-	10	2161	c.1310G>T	c.(1309-1311)gGc>gTc	p.G437V	ARAP1_ENST00000426523.1_Missense_Mutation_p.G192V|ARAP1_ENST00000334211.8_Missense_Mutation_p.G192V|ARAP1_ENST00000393605.3_Missense_Mutation_p.G197V|ARAP1_ENST00000429686.1_Missense_Mutation_p.G192V|ARAP1_ENST00000393609.3_Missense_Mutation_p.G437V|ARAP1_ENST00000455638.2_Missense_Mutation_p.G437V			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	437					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	p.G437V(1)|p.G197V(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CTGCTCTGAGCCTGGAACTCC	0.627000													34	76					1.45844e-13	2.28424e-13	1	1	0
CACNA2D1	781	broad.mit.edu	37	7	81579777	81579777	+	Silent	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr7:81579777C>A	ENST00000356860.3	-	39	3545	c.3207G>T	c.(3205-3207)ctG>ctT	p.L1069L	CACNA2D1_ENST00000535308.1_Silent_p.L281L|CACNA2D1_ENST00000356253.5_Silent_p.L1081L	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1081						voltage-gated calcium channel complex	metal ion binding	p.L1069L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TGATATACCACAGGGAGGGAT	0.368000													5	9					0.184627	0.186999	1	1	0
CDK15	65061	broad.mit.edu	37	2	202671450	202671450	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:202671450G>T	ENST00000450471.2	+	1	149	c.63G>T	c.(61-63)gaG>gaT	p.E21D	CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000260967.2_Intron|CDK15_ENST00000434439.1_Missense_Mutation_p.E21D|CDK15_ENST00000410091.3_Intron|CDK15_ENST00000374598.4_Missense_Mutation_p.E21D	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	21							ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	ATTGTTCAGAGGGAGGCGAGG	0.512000													9	17					0.000673444	0.000754832	1	1	0
PCDHA2	56146	broad.mit.edu	37	5	140174650	140174650	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr5:140174650C>A	ENST00000526136.1	+	1	101	c.101C>A	c.(100-102)tCc>tAc	p.S34Y	PCDHA2_ENST00000520672.2_Missense_Mutation_p.S34Y|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.S34Y|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1												p.S34*(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGCTACTCCGTCCCCGAG	0.701000													14	47					1.15088e-07	1.53775e-07	1	1	0
DDX60	55601	broad.mit.edu	37	4	169201532	169201532	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:169201532T>A	ENST00000393743.3	-	14	2223	c.1932A>T	c.(1930-1932)ttA>ttT	p.L644F		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	644							ATP binding|ATP-dependent helicase activity|RNA binding	p.L644F(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGCAAGCAGTTAACCCCACCA	0.353000													30	48					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063009	9063009	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:9063009G>T	ENST00000397910.4	-	3	24640	c.24437C>A	c.(24436-24438)cCc>cAc	p.P8146H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8148	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P8146H(4)|p.P3779H(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCACCAGTGGGCACTCCAGA	0.547000													23	27					1.55795e-14	2.51505e-14	1	1	0
LRRC4C	57689	broad.mit.edu	37	11	40137021	40137021	+	Silent	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:40137021C>A	ENST00000278198.2	-	2	2785	c.822G>T	c.(820-822)ctG>ctT	p.L274L	LRRC4C_ENST00000530763.1_Silent_p.L274L|LRRC4C_ENST00000528697.1_Silent_p.L274L|LRRC4C_ENST00000527150.1_Silent_p.L274L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	274					regulation of axonogenesis	integral to membrane	protein binding	p.L274L(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TATTGTGTGCCAGGTTGATCT	0.433000													33	56					9.93527e-08	1.33886e-07	1	1	0
DIAPH2	1730	broad.mit.edu	37	X	96167533	96167533	+	Missense_Mutation	SNP	A	A	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chrX:96167533A>C	ENST00000324765.8	+	7	1061	c.714A>C	c.(712-714)aaA>aaC	p.K238N	DIAPH2_ENST00000373061.3_Missense_Mutation_p.K238N|DIAPH2_ENST00000373049.4_Missense_Mutation_p.K238N|DIAPH2_ENST00000355827.4_Missense_Mutation_p.K238N|DIAPH2_ENST00000373054.4_Missense_Mutation_p.K234N			O60879	DIAP2_HUMAN	diaphanous-related formin 2	238	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	p.K238N(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AATGCCTCAAAGCATTTATGA	0.299000													5	9					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9303276	9303276	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:9303276G>C	ENST00000261336.2	-	34	4376	c.4348C>G	c.(4348-4350)Cca>Gca	p.P1450A	PZP_ENST00000381997.2_Missense_Mutation_p.P1236A	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.P1236A(1)|p.P1450A(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACAATTGCTGGCTTCAAGTCT	0.398000													8	49					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	93101784	93101784	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:93101784T>C	ENST00000370331.1	-	12	1463	c.1454A>G	c.(1453-1455)cAg>cGg	p.Q485R	EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000540033.1_Missense_Mutation_p.Q485R|EVI5_ENST00000543509.1_Missense_Mutation_p.Q496R	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	485	Dimerization.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	p.Q485R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GACTTTATCCTGCATCTCTTT	0.398000													33	49					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243328308	243328308	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:243328308C>T	ENST00000366542.1	-	13	3005	c.2954G>A	c.(2953-2955)aGg>aAg	p.R985K	RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.R887K|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.R887K	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	985	Targeting to microtubules.					centriole|microtubule|spindle		p.R985K(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CATTTTTTCCCTAGCACCTGA	0.413000													5	37					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105405219	105405219	+	Splice_Site	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:105405219C>A	ENST00000351513.2	-	8	1368	c.1235_splice	c.e8-1	p.R412_splice	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	412					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.?(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGAGATAGTCCTATATTTGT	0.368000													18	82					3.32936e-07	4.35024e-07	1	1	0
TTN	7273	broad.mit.edu	37	2	179433898	179433898	+	Missense_Mutation	SNP	T	T	C	rs75544937		TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:179433898T>C	ENST00000589042.1	-	326	77185	c.76961A>G	c.(76960-76962)aAc>aGc	p.N25654S	TTN_ENST00000460472.2_Missense_Mutation_p.N16589S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N24013S|TTN_ENST00000342992.6_Missense_Mutation_p.N23086S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N16781S|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N16714S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24013	Ig-like 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.N16714S(1)|p.N23086S(1)|p.N23084S(1)|p.N16781S(1)|p.N16589S(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)			CTTATGGCAGTTAGTTACAAC	0.403000													53	165					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70903946	70903946	+	Silent	SNP	G	G	A	rs150530252	by1000genomes	TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:70903946G>A	ENST00000264436.3	-	13	2019	c.1575C>T	c.(1573-1575)gcC>gcT	p.A525A	ADD2_ENST00000413157.2_Silent_p.A525A|ADD2_ENST00000407644.2_Silent_p.A525A|ADD2_ENST00000430656.1_Silent_p.A541A|ADD2_ENST00000355733.3_Silent_p.A525A	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	525					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	p.A525A(4)|p.A541A(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGCTCTTCTCGGCAATGACGC	0.607000													10	54					0	0	1	0	0
GATC	283459	broad.mit.edu	37	12	120884581	120884581	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:120884581G>T	ENST00000551765.1	+	2	246	c.203G>T	c.(202-204)cGc>cTc	p.R68L	AL021546.6_ENST00000551806.1_Silent_p.T99T	NM_176818.2	NP_789788.1	O43716	GATCL_HUMAN	glutamyl-tRNA(Gln) amidotransferase, subunit C	68					regulation of translational fidelity			p.R68L(1)		breast(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACCGGCTACGCGCCGTGGAC	0.667000													13	47					8.60227e-14	1.37462e-13	1	1	0
CYP39A1	51302	broad.mit.edu	37	6	46555804	46555804	+	Silent	SNP	T	T	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:46555804T>C	ENST00000275016.2	-	9	1331	c.1128A>G	c.(1126-1128)ccA>ccG	p.P376P		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	376					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	p.P376P(1)	EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						GAAAATACTTTGGATTTCTAT	0.299000													14	37					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117647604	117647604	+	Missense_Mutation	SNP	C	C	A	rs148829010		TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:117647604C>A	ENST00000321322.6	-	3	594	c.593G>T	c.(592-594)cGt>cTt	p.R198L	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	138	Ig-like C2-type 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.R198L(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACGTTGCCACGCATTGACCT	0.522000													5	20					0.014758	0.0155468	1	1	0
ADGRG1	9289	broad.mit.edu	37	16	57695697	57695697	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr16:57695697A>T	ENST00000562631.1	+	13	2285	c.1753A>T	c.(1753-1755)Acc>Tcc	p.T585S	GPR56_ENST00000379694.4_Missense_Mutation_p.T421S|GPR56_ENST00000540164.2_Missense_Mutation_p.T585S|GPR56_ENST00000456916.1_Missense_Mutation_p.T591S|GPR56_ENST00000568908.1_Missense_Mutation_p.T585S|GPR56_ENST00000568909.1_Missense_Mutation_p.T591S|GPR56_ENST00000538815.1_Missense_Mutation_p.T585S|GPR56_ENST00000562558.1_Missense_Mutation_p.T585S|GPR56_ENST00000567835.1_Missense_Mutation_p.T591S|GPR56_ENST00000388813.5_Missense_Mutation_p.T585S|GPR56_ENST00000388812.4_Missense_Mutation_p.T591S|GPR56_ENST00000379696.3_Missense_Mutation_p.T591S|GPR56_ENST00000544297.1_Missense_Mutation_p.T410S			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	591					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	p.T591S(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CATGCTAGCCACCATGGTGGT	0.622000													28	25					0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2683352	2683352	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:2683352T>C	ENST00000274643.7	-	7	932	c.590A>G	c.(589-591)tAc>tGc	p.Y197C	MYLK4_ENST00000268446.5_Missense_Mutation_p.Y197C	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	197	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.Y197C(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CGTCAAATTGTAGCTCTCATC	0.493000													15	34					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911788	88911788	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:88911788C>A	ENST00000263321.5	+	1	1169	c.667C>A	c.(667-669)Cag>Aag	p.Q223K	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	223					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.Q223K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	ACAAGAAATCCAGAAGCTGAC	0.468000													39	58					6.97489e-18	1.21739e-17	1	1	0
SLCO1A2	6579	broad.mit.edu	37	12	21446879	21446879	+	Splice_Site	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:21446879C>A	ENST00000307378.6	-	12	2157	c.1437_splice	c.e12+1	p.M479_splice	SLCO1A2_ENST00000390670.3_Splice_Site_p.M477_splice|SLCO1A2_ENST00000452078.1_Splice_Site_p.M479_splice|SLCO1A2_ENST00000537524.1_Splice_Site_p.M347_splice|SLCO1A2_ENST00000458504.1_Splice_Site_p.M347_splice	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	479	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.M479I(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						GATGTCTTACCATGTTTATTC	0.378000													7	29					0.248553	0.251208	1	1	0
MBTPS2	51360	broad.mit.edu	37	X	21900607	21900607	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chrX:21900607C>T	ENST00000379484.5	+	11	1493	c.1394C>T	c.(1393-1395)gCt>gTt	p.A465V		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	465					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	p.A465V(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CCCTGCTTTGCTTTGGATGGA	0.428000													43	37					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85328123	85328123	+	Silent	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr15:85328123G>A	ENST00000299927.3	+	1	2239	c.2217G>A	c.(2215-2217)ggG>ggA	p.G739G	ZNF592_ENST00000560079.2_Silent_p.G739G			Q92610	ZN592_HUMAN	zinc finger protein 592	739					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G739G(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGACAGAGGGGCTGGTAAGCA	0.542000													15	43					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027988	55027988	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr20:55027988C>A	ENST00000371336.3	+	5	1957	c.1756C>A	c.(1756-1758)Ctc>Atc	p.L586I	CASS4_ENST00000360314.3_Missense_Mutation_p.L586I|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	586					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.L586I(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CAATGGAAGGCTCCTTTTTAA	0.468000													15	42					7.93312e-07	1.0169e-06	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52321549	52321549	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:52321549C>A	ENST00000356297.4	-	17	2735	c.2635G>T	c.(2635-2637)Gat>Tat	p.D879Y	PXDNL_ENST00000543296.1_Missense_Mutation_p.D879Y	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	879					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.D879Y(1)|p.D78Y(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TAGACTGAATCCACCGTCGCA	0.657000													31	33					1.39806e-14	2.26466e-14	1	1	0
CD163	9332	broad.mit.edu	37	12	7656240	7656240	+	Splice_Site	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:7656240C>G	ENST00000359156.4	-	1	249		c.e1+1		CD163_ENST00000396620.3_Splice_Site|CD163_ENST00000432237.2_Splice_Site	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule						acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.?(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GAAGCTTTTACCAGCAGATCC	0.348000													10	23					0	0	1	0	0
FOXN4	121643	broad.mit.edu	37	12	109723211	109723211	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:109723211G>C	ENST00000299162.5	-	8	903	c.799C>G	c.(799-801)Ctg>Gtg	p.L267V	FOXN4_ENST00000355216.1_Missense_Mutation_p.L87V	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	267					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.L87V(1)|p.L267V(1)		large_intestine(5)|lung(9)|ovary(2)	16						AGAGCCCACAGGCAGCCCTTG	0.607000													13	17					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42028381	42028381	+	Nonsense_Mutation	SNP	A	A	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr15:42028381A>T	ENST00000219905.7	+	13	4100	c.3919A>T	c.(3919-3921)Aag>Tag	p.K1307*	MGA_ENST00000389936.4_Nonsense_Mutation_p.K1307*|MGA_ENST00000566586.1_Nonsense_Mutation_p.K1307*|MGA_ENST00000545763.1_Nonsense_Mutation_p.K1307*|MGA_ENST00000570161.1_Nonsense_Mutation_p.K1307*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1307						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.K1307*(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TACATCAGAAAAGAGCTGGAA	0.358000													13	14					0	0	1	0	0
TSPAN31	6302	broad.mit.edu	37	12	58140819	58140819	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:58140819C>T	ENST00000547992.1	+	3	343	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S	TSPAN31_ENST00000257910.3_Missense_Mutation_p.P155S|TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000547472.1_Missense_Mutation_p.P72S			Q12999	TSN31_HUMAN	tetraspanin 31	155					positive regulation of cell proliferation	integral to plasma membrane|membrane fraction		p.P155S(1)		endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GAGCCAGAGCCCCACATGCCA	0.438000													12	95					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125547524	125547524	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:125547524C>A	ENST00000431078.1	+	18	3159	c.2795C>A	c.(2794-2796)tCc>tAc	p.S932Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	932	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.S932Y(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGCATTCGCTCCTTACACTTG	0.493000													11	33					6.40141e-05	7.58864e-05	1	1	0
DLG2	1740	broad.mit.edu	37	11	83344258	83344258	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:83344258C>T	ENST00000398309.2	-	14	2091	c.1621G>A	c.(1621-1623)Gtc>Atc	p.V541I	DLG2_ENST00000404783.3_Missense_Mutation_p.V23I|DLG2_ENST00000543673.1_Missense_Mutation_p.V646I|DLG2_ENST00000537455.1_Missense_Mutation_p.V295I|DLG2_ENST00000376106.3_Missense_Mutation_p.V23I|DLG2_ENST00000532653.1_Missense_Mutation_p.V541I|DLG2_ENST00000330014.6_Missense_Mutation_p.V480I|DLG2_ENST00000530800.1_Missense_Mutation_p.V50I|DLG2_ENST00000524982.1_Missense_Mutation_p.V541I|DLG2_ENST00000531015.1_Missense_Mutation_p.V508I|DLG2_ENST00000280241.8_Missense_Mutation_p.V580I|DLG2_ENST00000398304.1_Missense_Mutation_p.V23I|DLG2_ENST00000418306.2_Missense_Mutation_p.V438I|DLG2_ENST00000426717.2_Missense_Mutation_p.V23I|DLG2_ENST00000376104.2_Missense_Mutation_p.V646I	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	541	SH3.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.V541I(1)|p.V580I(1)|p.V646I(1)|p.V438I(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GCCTACCTGACGTAGAGGGAG	0.478000													10	34					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134084244	134084244	+	Silent	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:134084244C>A	ENST00000264360.4	+	4	3736	c.2910C>A	c.(2908-2910)cgC>cgA	p.R970R		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	970					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S971G(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGATTATCGCAGCAATCTGC	0.532000													28	39					8.58068e-18	1.49216e-17	1	1	0
LIG4	3981	broad.mit.edu	37	13	108861556	108861556	+	Silent	SNP	A	A	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr13:108861556A>C	ENST00000356922.4	-	2	2333	c.2061T>G	c.(2059-2061)ggT>ggG	p.G687G	LIG4_ENST00000405925.1_Silent_p.G687G|LIG4_ENST00000442234.1_Silent_p.G687G	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	687	BRCT 1.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	p.G687G(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GTACTATATAACCACCAAATT	0.368000								Non-homologous end-joining					22	37					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56496092	56496092	+	Silent	SNP	T	T	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:56496092T>C	ENST00000370754.5	-	29	3959	c.3960A>G	c.(3958-3960)tcA>tcG	p.S1320S	DST_ENST00000244364.6_Silent_p.S816S|DST_ENST00000370788.2_Silent_p.S1142S|DST_ENST00000421834.2_Silent_p.S1142S|DST_ENST00000312431.6_Silent_p.S1142S|DST_ENST00000370765.6_Silent_p.S816S|DST_ENST00000446842.2_Silent_p.S816S|DST_ENST00000518935.1_Silent_p.S816S|DST_ENST00000370769.4_Silent_p.S1142S|DST_ENST00000361203.3_Silent_p.S1142S			Q03001	DYST_HUMAN	dystonin	1142					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.S816S(3)|p.S1142S(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGGTAGGGACTGATGAAGAGG	0.388000													21	49					0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34355202	34355202	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr15:34355202G>A	ENST00000383263.5	+	3	954	c.284G>A	c.(283-285)cGc>cAc	p.R95H	CHRM5_ENST00000557872.1_Missense_Mutation_p.R95H	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	95					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.R95H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CTCATGGGACGCTGGGCTCTC	0.502000													6	22					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39226990	39226990	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr3:39226990G>A	ENST00000340369.3	-	2	4175	c.3947C>T	c.(3946-3948)cCc>cTc	p.P1316L	XIRP1_ENST00000421646.1_5'UTR|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1316	Pro-rich.						actin binding	p.P1316L(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGGCATGGTGGGGTCCAGTTT	0.617000													6	37					0	0	1	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188744	70188744	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:70188744G>C	ENST00000320256.4	-	1	653	c.77C>G	c.(76-78)gCc>gGc	p.A26G		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	26					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	p.A26G(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GACTGCTGGGGCAGAGGCAGG	0.642000													16	73					0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169677729	169677729	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:169677729C>A	ENST00000236147.4	-	3	500	c.340G>T	c.(340-342)Gtg>Ttg	p.V114L	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	101	C-type lectin.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding	p.V101L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TTGGTTCCCACCCACGTCCAT	0.458000													3	36					0.004672	0.00504533	1	1	0
TLK2	11011	broad.mit.edu	37	17	60663513	60663513	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:60663513G>C	ENST00000582809.1	+	17	1642	c.939G>C	c.(937-939)gaG>gaC	p.E313D	TLK2_ENST00000326270.9_Missense_Mutation_p.E484D|TLK2_ENST00000346027.5_Missense_Mutation_p.E462D|TLK2_ENST00000343388.7_Missense_Mutation_p.E430D|TLK2_ENST00000542523.1_Missense_Mutation_p.E430D			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	484					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.E461D(1)|p.E484D(1)|p.E462D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						ATCTAACAGAGCAAAGATACG	0.303000													3	36					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30675940	30675940	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:30675940C>A	ENST00000376406.3	-	8	3063	c.2416G>T	c.(2416-2418)Ggg>Tgg	p.G806W	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Intron	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	806				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.G806W(1)		breast(2)|kidney(1)|ovary(1)	4						GTCTGCCTCCCTCTGCCTTGA	0.532000								Other conserved DNA damage response genes					47	104					4.86159e-25	9.01778e-25	1	1	0
ITGA4	3676	broad.mit.edu	37	2	182360546	182360546	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:182360546C>A	ENST00000397033.2	+	14	1852	c.1422C>A	c.(1420-1422)agC>agA	p.S474R		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	474					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.S474R(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CTTCTTTAAGCCACCCTGAGT	0.373000													13	60					0.000219431	0.000253149	1	1	0
OR2T6	254879	broad.mit.edu	37	1	248550933	248550933	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:248550933G>T	ENST00000355728.2	+	1	24	c.24G>T	c.(22-24)ttG>ttT	p.L8F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L8F(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			ATGAAACCTTGACCAGAGGCT	0.398000													8	56					0.0581538	0.0600584	1	1	0
OR10G7	390265	broad.mit.edu	37	11	123909454	123909454	+	Silent	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:123909454G>C	ENST00000330487.5	-	1	263	c.255C>G	c.(253-255)tcC>tcG	p.S85S		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S85S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGCCGCTTGGGGACACCAAGG	0.532000													39	144					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													4	48					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961445	73961445	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chrX:73961445C>G	ENST00000373468.1	-	3	3598	c.2947G>C	c.(2947-2949)Gtc>Ctc	p.V983L	KIAA2022_ENST00000055682.5_Missense_Mutation_p.V983L			Q5QGS0	K2022_HUMAN	KIAA2022	983					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.V983L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCCATATTGACTGGCCCCTGC	0.433000													14	10					0	0	1	0	0
ST8SIA1	6489	broad.mit.edu	37	12	22487122	22487122	+	Silent	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:22487122G>T	ENST00000396037.4	-	1	526	c.45C>A	c.(43-45)gcC>gcA	p.A15A	ST8SIA1_ENST00000381424.3_Silent_p.A15A|ST8SIA1_ENST00000404299.3_Silent_p.A15A|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000536558.1_Intron	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	15					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.A15A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						GTACAGCCATGGCCCCTCTGG	0.697000													11	41					2.27111e-07	2.9923e-07	1	1	0
ZNF786	136051	broad.mit.edu	37	7	148767932	148767932	+	Silent	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr7:148767932G>A	ENST00000316286.9	-	3	1946	c.1674C>T	c.(1672-1674)agC>agT	p.S558S	ZNF786_ENST00000491431.1_Silent_p.S644S|ZNF786_ENST00000451334.3_Silent_p.S607S			Q8N393	ZN786_HUMAN	zinc finger protein 786	644					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S643S(1)		breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCATCTCCCCGCTGTGCAGCA	0.587000													23	29					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539627	55539627	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:55539627G>A	ENST00000220676.1	+	4	3333	c.3185G>A	c.(3184-3186)aGg>aAg	p.R1062K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1062					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	p.R1062K(1)		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)			GCTAGAAAAAGGCAAAGTGTA	0.378000													61	70					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579884	44579884	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr7:44579884C>T	ENST00000289547.4	-	2	167	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	NPC1L1_ENST00000381160.3_Missense_Mutation_p.E38K|NPC1L1_ENST00000423141.1_Missense_Mutation_p.E38K|NPC1L1_ENST00000546276.1_Missense_Mutation_p.E38K	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	38					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.E38K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TTCCCACATTCGTCATAGAAG	0.587000													9	19					0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180634429	180634429	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:180634429G>C	ENST00000410066.1	-	3	657	c.54C>G	c.(52-54)gaC>gaG	p.D18E		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	18						nucleus	nucleic acid binding|zinc ion binding	p.D18E(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CCTCAGGCCTGTCGTTCTTTA	0.463000													13	81					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103205881	103205881	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr7:103205881T>G	ENST00000428762.1	-	34	5213	c.5054A>C	c.(5053-5055)cAg>cCg	p.Q1685P	RELN_ENST00000343529.5_Missense_Mutation_p.Q1685P|RELN_ENST00000424685.2_Missense_Mutation_p.Q1685P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1685					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.Q1685P(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGAGAATACTGGAGCTGTAC	0.473000													7	10					0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72443106	72443106	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:72443106C>G	ENST00000392627.1	+	4	2526	c.1400C>G	c.(1399-1401)gCc>gGc	p.A467G	GPRC5C_ENST00000392629.2_Missense_Mutation_p.A434G|GPRC5C_ENST00000481232.1_3'UTR|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000342648.5_Missense_Mutation_p.A107G	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	422						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.A434G(1)|p.A467G(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CACCAGGCGGCCACACCGCCG	0.637000													11	52					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23641491	23641491	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr16:23641491T>C	ENST00000261584.4	-	5	2136	c.1984A>G	c.(1984-1986)Aaa>Gaa	p.K662E		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	662					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.K662E(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TCCATGCGTTTAGGACTCAGT	0.433000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					52	81					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11806089	11806089	+	Silent	SNP	T	T	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:11806089T>C	ENST00000262442.3	+	60	11528	c.11460T>C	c.(11458-11460)tcT>tcC	p.S3820S	DNAH9_ENST00000396001.2_Silent_p.S132S|DNAH9_ENST00000454412.2_Silent_p.S3820S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3820					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S3820S(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TAGAGGGATCTGCTAAGAGCT	0.468000													33	45					0	0	1	0	0
ABHD6	57406	broad.mit.edu	37	3	58253072	58253072	+	Splice_Site	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr3:58253072G>T	ENST00000478253.1	+	4	777	c.276_splice	c.e4+1	p.K92_splice	ABHD6_ENST00000295962.4_Splice_Site_p.K92_splice			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	92						integral to membrane	acylglycerol lipase activity	p.K92N(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		GTGTGGTCAAGGTGCAATTCT	0.522000													4	23					0.150653	0.153245	1	1	0
ACAP3	116983	broad.mit.edu	37	1	1233393	1233393	+	Splice_Site	SNP	T	T	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:1233393T>A	ENST00000354700.5	-	13	1218	c.1016_splice	c.e13+1	p.K339_splice	ACAP3_ENST00000379037.2_5'UTR|ACAP3_ENST00000353662.3_Splice_Site_p.K297_splice	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	339	PH.				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.K297M(1)|p.K339M(1)		endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GCCTCCTCACTTGGTGGGTGA	0.677000													3	16					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139158277	139158277	+	Silent	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:139158277G>T	ENST00000395297.1	-	15	3635	c.3465C>A	c.(3463-3465)ctC>ctA	p.L1155L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1155								p.L1155L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTACCAGCCGGAGGTCTGCAC	0.438000										HNSCC(54;0.14)			25	67					9.39395e-14	1.48607e-13	1	1	0
NAMPT	10135	broad.mit.edu	37	7	105909741	105909741	+	Silent	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr7:105909741G>A	ENST00000222553.3	-	5	772	c.465C>T	c.(463-465)tcC>tcT	p.S155S	NAMPT_ENST00000484527.1_5'UTR|NAMPT_ENST00000354289.4_Silent_p.S155S	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	155					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	p.S155S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TTGGATACCAGGACTGAACAA	0.323000													13	22					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39553787	39553787	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:39553787G>T	ENST00000251645.2	-	1	57	c.5C>A	c.(4-6)cCc>cAc	p.P2H		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	2	Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.P2H(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GAAGTTGTAGGGCATAGTGCT	0.642000													3	23					0.00909568	0.00968977	1	1	0
ANK1	286	broad.mit.edu	37	8	41550261	41550261	+	Missense_Mutation	SNP	G	G	T	rs148275567	byFrequency	TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:41550261G>T	ENST00000396942.1	-	31	3846	c.3763C>A	c.(3763-3765)Cgc>Agc	p.R1255S	ANK1_ENST00000352337.4_Missense_Mutation_p.R1255S|ANK1_ENST00000379758.2_Missense_Mutation_p.R1255S|ANK1_ENST00000396945.1_Missense_Mutation_p.R1255S|ANK1_ENST00000347528.4_Missense_Mutation_p.R1255S|ANK1_ENST00000289734.7_Missense_Mutation_p.R1255S|ANK1_ENST00000265709.8_Missense_Mutation_p.R1296S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1255					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R1296S(1)|p.R1255S(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAGCGCAGGCGCCCCTCTCGG	0.552000													125	355					3.39902e-54	6.58908e-54	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181754858	181754858	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:181754858C>T	ENST00000526775.1	+	42	5797	c.5632C>T	c.(5632-5634)Ccc>Tcc	p.P1878S	CACNA1E_ENST00000367567.4_Missense_Mutation_p.P1504S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1897S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P1829S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1848S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1878S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1897S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1897					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P1897S(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAAAATGCCCCCATGTTCCA	0.478000													35	134					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116525980	116525980	+	Splice_Site	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:116525980G>T	ENST00000410059.1	+	13	1701	c.1221_splice	c.e13+1	p.Q407_splice	DPP10_ENST00000393147.2_Splice_Site_p.Q411_splice|DPP10_ENST00000409163.1_Splice_Site_p.Q357_splice|DPP10_ENST00000310323.8_Splice_Site_p.Q400_splice	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	407					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.Q400H(1)|p.Q407H(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCCTCATCCAGGTAAGTGCTG	0.463000													6	36					1	1	1	1	0
STAT3	6774	broad.mit.edu	37	17	40474406	40474406	+	Silent	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:40474406G>A	ENST00000264657.5	-	21	2307	c.1995C>T	c.(1993-1995)atC>atT	p.I665I	STAT3_ENST00000588969.1_Silent_p.I665I|STAT3_ENST00000585517.1_Silent_p.I665I|STAT3_ENST00000404395.3_Silent_p.I665I|STAT3_ENST00000389272.3_Silent_p.I567I	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	665	SH2.				cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	p.I665I(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GAGACACCAGGATATTGGTAG	0.493000									Hyperimmunoglobulin E Recurrent Infection Syndrome				35	94					0	0	1	0	0
MOS	4342	broad.mit.edu	37	8	57026479	57026479	+	Silent	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:57026479C>T	ENST00000311923.1	-	1	62	c.63G>A	c.(61-63)gcG>gcA	p.A21A		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	21							ATP binding|protein binding|protein serine/threonine kinase activity	p.A21A(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			TGCAGGGCCGCGCGTCCACCG	0.706000													5	25					0	0	1	0	0
CAPNS2	84290	broad.mit.edu	37	16	55601252	55601252	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr16:55601252G>T	ENST00000457326.2	+	1	669	c.584G>T	c.(583-585)cGc>cTc	p.R195L	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	195	EF-hand 3.					cytoplasm|plasma membrane	calcium ion binding	p.R195L(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						ATGATTGTCCGCCGGTATGCT	0.498000													38	138					1.22674e-20	2.22318e-20	1	1	0
RUNX1T1	862	broad.mit.edu	37	8	93003969	93003969	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:93003969G>T	ENST00000523629.1	-	7	1343	c.889C>A	c.(889-891)Cct>Act	p.P297T	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P260T|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P270T|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P260T|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P308T|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P270T|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P260T|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P297T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	297	Poly-Pro.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P260T(1)|p.P297T(1)|p.P308T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TAATGCTGAGGTGGAGGTGGG	0.557000													41	70					7.63091e-17	1.32213e-16	1	1	0
DZIP3	9666	broad.mit.edu	37	3	108363233	108363233	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr3:108363233C>A	ENST00000361582.3	+	14	1594	c.1364C>A	c.(1363-1365)cCt>cAt	p.P455H	DZIP3_ENST00000463306.1_Missense_Mutation_p.P455H	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	455					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.P455H(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CTTTATCCTCCTAACAAGGAG	0.398000													18	84					2.94398e-08	4.04798e-08	1	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125299259	125299259	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chrX:125299259C>T	ENST00000538699.1	-	2	729	c.649G>A	c.(649-651)Gtg>Atg	p.V217M	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.V217M	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	217								p.V217M(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CACAGAGCCACGGTGCCGTCG	0.637000													22	12					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26515135	26515135	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:26515135C>G	ENST00000531191.1	+	18	1870	c.863C>G	c.(862-864)cCt>cGt	p.P288R	CNKSR1_ENST00000361530.6_Missense_Mutation_p.P546R|CNKSR1_ENST00000374253.5_Missense_Mutation_p.P553R			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	553	Pro-rich.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	p.P546R(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GACACATCACCTGCAGCCACC	0.652000													5	16					0	0	1	0	0
RGS20	8601	broad.mit.edu	37	8	54764487	54764487	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:54764487G>A	ENST00000297313.3	+	1	120	c.28G>A	c.(28-30)Gag>Aag	p.E10K	RGS20_ENST00000344277.6_Missense_Mutation_p.E10K	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	10					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	p.E10K(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			AGATAACCAAGAGTGCCTCCA	0.463000													76	79					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58009719	58009719	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:58009719C>A	ENST00000286494.4	+	13	1799	c.1339C>A	c.(1339-1341)Cag>Aag	p.Q447K	AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.Q486K	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	447	PH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	p.Q486K(1)|p.Q447K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CTATGTCCTGCAGGCTGCAGA	0.597000													34	86					9.65963e-10	1.39299e-09	1	1	0
DST	667	broad.mit.edu	37	6	56483840	56483840	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:56483840C>A	ENST00000370765.6	-	23	5099	c.4992G>T	c.(4990-4992)aaG>aaT	p.K1664N	DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1020					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.K1664N(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CACACTTTTGCTTAAATTCAC	0.368000													62	112					1.20869e-33	2.30529e-33	1	1	0
ARAP3	64411	broad.mit.edu	37	5	141051722	141051722	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr5:141051722C>T	ENST00000239440.4	-	10	1597	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	ARAP3_ENST00000508305.1_Missense_Mutation_p.R433H|ARAP3_ENST00000513878.1_Missense_Mutation_p.R173H	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	511	Arf-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	p.R511H(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCAATCTGGGCGGGAGGACCC	0.597000													17	134					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41111393	41111393	+	Silent	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:41111393C>T	ENST00000308370.7	+	6	726	c.726C>T	c.(724-726)ggC>ggT	p.G242G	LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Silent_p.G205G|LTBP4_ENST00000396819.3_Silent_p.G175G	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	242					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	p.G242G(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGTGTCTGGCCCTTgggagg	0.741000													5	14					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70064179	70064179	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:70064179G>T	ENST00000370598.1	+	27	4335	c.3514G>T	c.(3514-3516)Gat>Tat	p.D1172Y	BAI3_ENST00000546190.1_Missense_Mutation_p.D136Y|BAI3_ENST00000238918.8_Missense_Mutation_p.D378Y	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1172					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D1172Y(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CATCAATGCAGATTCTTCGAG	0.388000													46	67					1.51926e-22	2.80706e-22	1	1	0
DICER1	23405	broad.mit.edu	37	14	95582053	95582053	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr14:95582053C>A	ENST00000526495.1	-	13	2149	c.1858G>T	c.(1858-1860)Gat>Tat	p.D620Y	DICER1_ENST00000343455.3_Missense_Mutation_p.D620Y|DICER1_ENST00000393063.1_Missense_Mutation_p.D620Y|DICER1_ENST00000541352.1_Missense_Mutation_p.D620Y|DICER1_ENST00000527414.1_Missense_Mutation_p.D620Y			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	620					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.D620Y(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGACCACCATCGTCAGGCCTC	0.453000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				21	75					6.44725e-10	9.32584e-10	1	1	0
NAV2	89797	broad.mit.edu	37	11	20067038	20067038	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:20067038C>G	ENST00000396085.1	+	14	4085	c.3724C>G	c.(3724-3726)Cta>Gta	p.L1242V	NAV2_ENST00000349880.4_Missense_Mutation_p.L1242V|NAV2_ENST00000533917.1_Missense_Mutation_p.L328V|NAV2_ENST00000527559.2_Missense_Mutation_p.L1194V|NAV2_ENST00000396087.3_Missense_Mutation_p.L1265V|NAV2_ENST00000540292.1_Missense_Mutation_p.L1196V|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Missense_Mutation_p.L328V|NAV2_ENST00000360655.4_Missense_Mutation_p.L1178V	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1265						nucleus	ATP binding|helicase activity	p.L1265V(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGGCAGCTCTCTACCAGGTCT	0.537000													12	30					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54406361	54406361	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:54406361A>G	ENST00000263431.3	+	15	1892	c.1610A>G	c.(1609-1611)gAt>gGt	p.D537G	PRKCG_ENST00000542049.1_Missense_Mutation_p.D424G|PRKCG_ENST00000540413.1_Missense_Mutation_p.D537G	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	537	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.D537G(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		AAGTCTGTCGATTGGTGGTCC	0.547000													22	204					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248344045	248344045	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:248344045G>T	ENST00000359682.2	+	1	758	c.758G>T	c.(757-759)gGa>gTa	p.G253V		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G253L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGTACTATGGAGCAGCTTTG	0.498000													42	160					1.57945e-13	2.45751e-13	1	1	0
BRINP3	339479	broad.mit.edu	37	1	190203559	190203559	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:190203559G>T	ENST00000367462.3	-	5	898	c.667C>A	c.(667-669)Cta>Ata	p.L223I	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.L121I	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		223						extracellular region		p.L223I(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					ACAGAATCTAGGTTGTCATAG	0.378000													30	46					7.26314e-15	1.18057e-14	1	1	0
CHST8	64377	broad.mit.edu	37	19	34180192	34180192	+	Silent	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:34180192C>A	ENST00000262622.3	+	2	783	c.25C>A	c.(25-27)Cgg>Agg	p.R9R	CHST8_ENST00000434302.1_Silent_p.R9R|CHST8_ENST00000438847.2_Silent_p.R9R|CHST8_ENST00000604556.1_Silent_p.R9R	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	9					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.R9R(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TGGAACAATGCGGCTGGCCTG	0.642000													13	80					0.00185496	0.00204045	1	1	0
PCDHA2	56146	broad.mit.edu	37	5	140174651	140174651	+	Silent	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr5:140174651C>G	ENST00000526136.1	+	1	102	c.102C>G	c.(100-102)tcC>tcG	p.S34S	PCDHA2_ENST00000520672.2_Silent_p.S34S|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.S34S|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1												p.S34*(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCTACTCCGTCCCCGAGG	0.701000													15	48					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95952241	95952241	+	Silent	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:95952241G>T	ENST00000317620.9	+	17	2095	c.1962G>T	c.(1960-1962)ctG>ctT	p.L654L	PROM2_ENST00000403131.2_Silent_p.L654L|PROM2_ENST00000542147.1_Silent_p.L605L|PROM2_ENST00000317668.4_Silent_p.L654L	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	654						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.L654L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						ATTCTGTGCTGGGGCAGCGGC	0.582000													67	33					8.80822e-21	1.60242e-20	1	1	0
ATG2A	23130	broad.mit.edu	37	11	64662491	64662491	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:64662491T>C	ENST00000421419.2	-	41	5891	c.5777A>G	c.(5776-5778)cAc>cGc	p.H1926R	ATG2A_ENST00000377264.3_Missense_Mutation_p.H1924R			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1924							protein binding	p.H1924R(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GTGGTCCTTGTGGGCGTCGGG	0.697000													23	62					0	0	1	0	0
ZNF408	79797	broad.mit.edu	37	11	46727238	46727238	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:46727238G>T	ENST00000311764.2	+	5	2218	c.1988G>T	c.(1987-1989)aGa>aTa	p.R663I		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	p.R663I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GACACACACAGAGAGGAGGAA	0.617000													5	23					0.0215528	0.0226041	1	1	0
PRRC2B	84726	broad.mit.edu	37	9	134351319	134351319	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr9:134351319G>A	ENST00000357304.4	+	15	3858	c.3803G>A	c.(3802-3804)gGc>gAc	p.G1268D	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1268							protein binding	p.G1268D(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GCATTTGGTGGCCGGGGCTTT	0.557000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	25					0	0	1	0	0
IRGQ	126298	broad.mit.edu	37	19	44099262	44099262	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:44099262C>A	ENST00000422989.1	-	2	384	c.229G>T	c.(229-231)Gtg>Ttg	p.V77L	IRGQ_ENST00000602269.1_Missense_Mutation_p.V77L	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	77							protein binding	p.V77L(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				AGTACCAGCACGTTGGCTTCC	0.736000													9	3					1.12685e-05	1.37018e-05	1	1	0
UTRN	7402	broad.mit.edu	37	6	144844215	144844215	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:144844215G>T	ENST00000367545.3	+	40	5797	c.5797G>T	c.(5797-5799)Gat>Tat	p.D1933Y		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1933					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.D1933Y(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAAACAGCCAGATGTCATCCT	0.378000													13	31					4.3838e-07	5.69653e-07	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139149430	139149430	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:139149430C>A	ENST00000395297.1	-	19	4145	c.3975G>T	c.(3973-3975)agG>agT	p.R1325S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1325								p.R1325S(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACATTTCAATCCTGGCTGAAT	0.393000										HNSCC(54;0.14)			19	62					8.34094e-07	1.06629e-06	1	1	0
VARS2	57176	broad.mit.edu	37	6	30884915	30884915	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:30884915C>T	ENST00000321897.5	+	8	1419	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	VARS2_ENST00000542001.1_Missense_Mutation_p.R123W|VARS2_ENST00000541562.1_Missense_Mutation_p.R293W|VARS2_ENST00000416670.2_Missense_Mutation_p.R263W			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	263					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	p.R263W(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AGCTTTTGTGCGGCTCTACAA	0.557000													4	83					0	0	1	0	0
UPP2	151531	broad.mit.edu	37	2	158980300	158980300	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:158980300G>T	ENST00000605860.1	+	9	921	c.875G>T	c.(874-876)aGa>aTa	p.R292I	UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000005756.4_Missense_Mutation_p.R235I|UPP2_ENST00000409859.4_Missense_Mutation_p.R292I			O95045	UPP2_HUMAN	uridine phosphorylase 2	235					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	p.R235I(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						TCCTTTTCCAGAGAAAAAAAG	0.468000													16	34					1.02788e-11	1.54837e-11	1	1	0
TTLL3	26140	broad.mit.edu	37	3	9877020	9877020	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr3:9877020G>T	ENST00000547186.1	+	13	2382	c.2166G>T	c.(2164-2166)aaG>aaT	p.K722N	TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000397241.1_3'UTR|ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000430793.1_3'UTR|TTLL3_ENST00000426895.4_Missense_Mutation_p.K865N|TTLL3_ENST00000455274.1_Intron	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	722					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	p.K722N(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AGCTAGGGAAGCCCCTGCTTC	0.557000													4	48					0.00909568	0.00968977	1	1	0
TMCO5A	145942	broad.mit.edu	37	15	38243304	38243304	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr15:38243304G>T	ENST00000319669.4	+	11	838	c.736G>T	c.(736-738)Gta>Tta	p.V246L	TMCO5A_ENST00000540944.1_Intron|TMCO5A_ENST00000559502.1_Intron	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	246						integral to membrane		p.V246L(1)		central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						GTTTTTTCATGTAAGATTCAT	0.413000													46	56					8.48111e-28	1.5856e-27	1	1	0
LOC100130700	100130700	broad.mit.edu	37	16	34739714	34739714	+	RNA	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr16:34739714C>A	ENST00000562591.1	-	0	208					NR_034019.1																						TGTGTCCACCCTGCAGGGAGC	0.378000													12	9					1.08611e-07	1.45946e-07	1	1	0
GRIN3A	116443	broad.mit.edu	37	9	104341538	104341538	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr9:104341538C>G	ENST00000361820.3	-	7	3471	c.2871G>C	c.(2869-2871)agG>agC	p.R957S		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	957	PPP2CB binding site (By similarity).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.R957S(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTAGCAGCAGCCTGTATACTA	0.473000													21	21					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249336	52249336	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:52249336C>A	ENST00000595042.1	-	3	1053	c.912G>T	c.(910-912)atG>atT	p.M304I	FPR1_ENST00000304748.4_Missense_Mutation_p.M304I	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	304					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.M304I(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	AGTCCTGGCCCATGAAGACAT	0.542000													14	38					2.32078e-09	3.30642e-09	1	1	0
SIX6	4990	broad.mit.edu	37	14	60976591	60976591	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr14:60976591C>A	ENST00000327720.5	+	1	923	c.475C>A	c.(475-477)Cgt>Agt	p.R159S		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	159					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R159S(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		CAGCAAAAAACGTGAGCTCGC	0.602000													4	9					0.150653	0.153245	1	1	0
DCTD	1635	broad.mit.edu	37	4	183814239	183814239	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:183814239T>A	ENST00000438320.2	-	5	693	c.403A>T	c.(403-405)Agt>Tgt	p.S135C	DCTD_ENST00000510370.1_Missense_Mutation_p.S135C|DCTD_ENST00000357067.3_Missense_Mutation_p.S146C	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	135					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding	p.S135C(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		GCCTCGTCACTATCATGGTAT	0.507000													6	6					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	988579	988579	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:988579C>T	ENST00000448903.2	+	10	1300	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	AP2A2_ENST00000332231.5_Missense_Mutation_p.R388W|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	387					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	p.R388W(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGTGCGGCAGCGGGCCGTGGA	0.637000													39	93					0	0	1	0	0
TMEM59L	25789	broad.mit.edu	37	19	18724957	18724957	+	Silent	SNP	T	T	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:18724957T>C	ENST00000600490.1	+	4	545	c.360T>C	c.(358-360)tgT>tgC	p.C120C	TMEM59L_ENST00000262817.3_Silent_p.C120C			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	120						Golgi membrane|integral to membrane|membrane fraction		p.C120C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						AGCAGGCCTGTAGCCACGGCT	0.687000													2	3					0	0	1	0	0
GALK2	2585	broad.mit.edu	37	15	49531528	49531528	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr15:49531528G>C	ENST00000327171.3	+	5	667	c.435G>C	c.(433-435)ttG>ttC	p.L145F	GALK2_ENST00000559454.1_Missense_Mutation_p.L132F|GALK2_ENST00000543495.1_Missense_Mutation_p.L27F|GALK2_ENST00000396509.2_Missense_Mutation_p.L132F|GALK2_ENST00000544523.1_Missense_Mutation_p.L132F|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000560031.1_Missense_Mutation_p.L156F	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN	galactokinase 2	156					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity	p.L156F(1)|p.L145F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GTGCTGGCTTGGTGACGCTCA	0.468000													17	14					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113548	55113548	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:55113548T>A	ENST00000370862.3	+	2	671	c.335T>A	c.(334-336)cTg>cAg	p.L112Q		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	112					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.L112Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCAGCCACACTGGTCGTGGAT	0.443000													54	159					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167628	140167628	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr5:140167628G>C	ENST00000504120.2	+	1	1753	c.1753G>C	c.(1753-1755)Gtg>Ctg	p.V585L	PCDHA1_ENST00000378133.3_Missense_Mutation_p.V585L|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1												p.L584_V585>FL(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCGATTGGTGGGTGCGGG	0.672000													15	64					0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68480780	68480780	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:68480780G>T	ENST00000255087.5	-	8	1299	c.1116C>A	c.(1114-1116)tgC>tgA	p.C372*		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	372	CXC 2.				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	p.C372*(1)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTGACCTCCTGCAGTTGCACC	0.478000													67	143					3.56841e-20	6.41771e-20	1	1	0
RNF217	154214	broad.mit.edu	37	6	125404010	125404010	+	Splice_Site	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:125404010G>T	ENST00000521654.2	+	6	1556	c.1555_splice	c.e6-1	p.G519_splice	RNF217_ENST00000359704.2_Splice_Site_p.V265_splice|RNF217_ENST00000275184.6_Splice_Site_p.G163_splice|RNF217_ENST00000560949.1_Splice_Site_p.G284_splice|RNF217_ENST00000368414.2_Splice_Site_p.G81_splice			Q8TC41	RN217_HUMAN	ring finger protein 217	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	p.V265V(1)|p.G519V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		TTATCCCTAGGTTTATTTGTA	0.333000													9	15					5.4927e-09	7.70934e-09	1	1	0
ABCD2	225	broad.mit.edu	37	12	39998605	39998605	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:39998605G>T	ENST00000308666.3	-	4	1499	c.1364C>A	c.(1363-1365)gCt>gAt	p.A455D		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	455					fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	p.A455D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TTCTACCTTAGCTCCATTCTT	0.333000													39	86					3.76604e-16	6.38471e-16	1	1	0
CHPF	79586	broad.mit.edu	37	2	220404538	220404538	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:220404538G>C	ENST00000243776.6	-	4	2143	c.1895C>G	c.(1894-1896)gCc>gGc	p.A632G	CHPF_ENST00000535926.1_Missense_Mutation_p.A470G	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	632						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	p.A632G(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCCGGAGATGGCATGCATGCG	0.642000													47	50					0	0	1	0	0
HTR2A	3356	broad.mit.edu	37	13	47466589	47466589	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr13:47466589G>T	ENST00000378688.4	-	2	680	c.549C>A	c.(547-549)caC>caA	p.H183Q	HTR2A_ENST00000543956.1_Missense_Mutation_p.H99Q|HTR2A_ENST00000542664.1_Missense_Mutation_p.H183Q			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	183					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	p.H183Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGAAGCGGCTGTGGTGGATGG	0.493000													87	114					6.08685e-28	1.14249e-27	1	1	0
CMPK2	129607	broad.mit.edu	37	2	6991603	6991603	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:6991603C>A	ENST00000256722.5	-	4	1203	c.1204G>T	c.(1204-1206)Gcc>Tcc	p.A402S	CMPK2_ENST00000404168.1_Missense_Mutation_p.A402S|CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000458098.1_Intron	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	402					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity	p.A402S(1)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACACTGTTGGCCTCAAGTTCT	0.547000													16	15					1.99824e-07	2.64752e-07	1	1	0
CHST12	55501	broad.mit.edu	37	7	2473357	2473357	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr7:2473357G>T	ENST00000258711.6	+	2	1218	c.1083G>T	c.(1081-1083)caG>caT	p.Q361H		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	361					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	p.Q361H(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TGGACCGGCAGCTCCGCTTCC	0.652000													13	18					9.31168e-06	1.13809e-05	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75831100	75831100	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:75831100C>T	ENST00000322507.8	-	44	7313	c.7004G>A	c.(7003-7005)gGg>gAg	p.G2335E	COL12A1_ENST00000416123.2_Missense_Mutation_p.G2335E|COL12A1_ENST00000483888.2_Missense_Mutation_p.G2335E|COL12A1_ENST00000345356.6_Missense_Mutation_p.G1171E	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2335	VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.G2335E(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATTATCGTCCCCAATGCTCCA	0.428000													30	51					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210560646	210560646	+	Missense_Mutation	SNP	G	G	A	rs142649637	by1000genomes	TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:210560646G>A	ENST00000360351.4	+	7	4258	c.3752G>A	c.(3751-3753)cGc>cAc	p.R1251H	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R1247H|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1251					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.R1251H(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CTGCTCTTCCGCTCAGACACC	0.488000													15	37					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56485133	56485133	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:56485133C>A	ENST00000370765.6	-	23	3806	c.3699G>T	c.(3697-3699)gaG>gaT	p.E1233D	DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1575					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.E1233D(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAGGAGGTTCTCTTCCACGG	0.458000													28	67					5.60225e-13	8.63148e-13	1	1	0
FEZ1	9638	broad.mit.edu	37	11	125325762	125325762	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:125325762C>A	ENST00000278919.3	-	6	1142	c.908G>T	c.(907-909)cGg>cTg	p.R303L	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	303					axon guidance|cell adhesion|transport	microtubule|plasma membrane		p.R303L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CTTCTCTATCCGGCTGCTCTG	0.532000													54	109					1.51943e-15	2.53059e-15	1	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58189890	58189890	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:58189890G>T	ENST00000318203.5	+	5	1616	c.919G>T	c.(919-921)Gga>Tga	p.G307*		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	307					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G307*(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGATCCCATGGAGTCCAAAA	0.463000													22	50					2.21704e-12	3.39371e-12	1	1	0
TECRL	253017	broad.mit.edu	37	4	65188411	65188411	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:65188411G>T	ENST00000381210.3	-	4	541	c.431C>A	c.(430-432)aCc>aAc	p.T144N	TECRL_ENST00000507440.1_Missense_Mutation_p.T144N|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	144					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.T144N(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ACTTACTGTGGTCCAACTGAC	0.348000													7	44					8.12818e-05	9.56376e-05	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745984	77745984	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:77745984C>T	ENST00000409088.3	-	3	1425	c.1011G>A	c.(1009-1011)atG>atA	p.M337I	LRRTM4_ENST00000409093.1_Missense_Mutation_p.M337I|LRRTM4_ENST00000409911.1_Missense_Mutation_p.M338I|LRRTM4_ENST00000409282.1_Missense_Mutation_p.M338I|LRRTM4_ENST00000409884.1_Missense_Mutation_p.M337I	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	337	LRRCT.					integral to membrane		p.M337I(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CCGCACATATCATGGTGCTTT	0.398000													3	9					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95609741	95609741	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr9:95609741C>A	ENST00000395505.2	-	3	1312	c.1220G>T	c.(1219-1221)aGt>aTt	p.S407I	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.S443I|ZNF484_ENST00000395506.3_Missense_Mutation_p.S445I|ZNF484_ENST00000332591.6_Missense_Mutation_p.S407I	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S443I(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						CCCACAGTCACTGCATTCATA	0.388000													18	39					3.41278e-10	5.01319e-10	1	1	0
HOXB3	3213	broad.mit.edu	37	17	46628146	46628146	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:46628146C>G	ENST00000470495.1	-	2	2293	c.846G>C	c.(844-846)atG>atC	p.M282I	HOXB3_ENST00000489475.1_Missense_Mutation_p.M209I|HOXB3_ENST00000460160.1_Missense_Mutation_p.M150I|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.M150I|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.M209I|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.M282I|HOXB3_ENST00000476342.1_Missense_Mutation_p.M282I|HOXB3_ENST00000311626.4_Missense_Mutation_p.M282I|HOXB3_ENST00000490677.1_Missense_Mutation_p.M148I			P14651	HXB3_HUMAN	homeobox B3	282					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.M282I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						AGCTGGGGGTCATGGAGTGTA	0.672000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	81					0	0	1	0	0
ANTXR2	118429	broad.mit.edu	37	4	80905035	80905035	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:80905035C>A	ENST00000403729.2	-	14	1701	c.1176G>T	c.(1174-1176)atG>atT	p.M392I	ANTXR2_ENST00000404191.1_Missense_Mutation_p.M315I|ANTXR2_ENST00000307333.7_Missense_Mutation_p.M392I|ANTXR2_ENST00000346652.6_Missense_Mutation_p.M289I	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	392						endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity	p.M392I(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						TACCAACCTCCATTCTTTTAA	0.368000									Juvenile Hyaline Fibromatosis				3	17					6.4e-05	7.58864e-05	1	1	0
TOX2	84969	broad.mit.edu	37	20	42694601	42694601	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr20:42694601C>A	ENST00000358131.5	+	6	1364	c.1156C>A	c.(1156-1158)Cag>Aag	p.Q386K	TOX2_ENST00000341197.3_Missense_Mutation_p.Q404K|TOX2_ENST00000423191.1_Missense_Mutation_p.Q362K|TOX2_ENST00000435864.2_Missense_Mutation_p.Q282K|TOX2_ENST00000372999.1_Missense_Mutation_p.Q362K	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	386	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Q362K(1)|p.Q413K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CACACTGCACCAGCAGCTGTC	0.721000													18	21					7.45023e-12	1.1331e-11	1	1	0
C6orf10	10665	broad.mit.edu	37	6	32261527	32261527	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:32261527A>G	ENST00000375015.4	-	26	1120	c.920T>C	c.(919-921)cTa>cCa	p.L307P	C6orf10_ENST00000527965.1_Missense_Mutation_p.L292P|C6orf10_ENST00000533191.1_Missense_Mutation_p.L306P|C6orf10_ENST00000447241.2_Missense_Mutation_p.L308P|C6orf10_ENST00000442822.2_Missense_Mutation_p.L299P|C6orf10_ENST00000375007.4_Missense_Mutation_p.L306P			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	308						integral to membrane		p.L308P(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ACTGATTTTTAGTTGGGTTTC	0.418000													8	229					0	0	1	0	0
ANKS3	124401	broad.mit.edu	37	16	4750843	4750843	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr16:4750843C>A	ENST00000450067.2	-	7	1104	c.794G>T	c.(793-795)gGc>gTc	p.G265V	ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000304283.4_Intron|ANKS3_ENST00000446014.2_Intron			Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	0										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GCCTAACAGGCCATGGGGATG	0.587000													3	35					0.115264	0.118264	1	1	0
OR11A1	26531	broad.mit.edu	37	6	29394566	29394566	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:29394566G>A	ENST00000377149.1	-	5	1325	c.853C>T	c.(853-855)Ctc>Ttc	p.L285F	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Missense_Mutation_p.L285F|OR11A1_ENST00000377147.2_Missense_Mutation_p.L285F			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L285F(1)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GGATTGAAGAGAGGGGTGACC	0.468000													30	63					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174292	207174292	+	Silent	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:207174292G>T	ENST00000374423.3	+	5	5426	c.5040G>T	c.(5038-5040)ctG>ctT	p.L1680L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1680							nucleic acid binding|zinc ion binding	p.L1680L(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CTCACCGACTGCAGAAAGCTC	0.413000													10	37					2.17888e-05	2.62241e-05	1	1	0
APOBEC3F	200316	broad.mit.edu	37	22	39448223	39448223	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr22:39448223T>C	ENST00000308521.5	+	6	1225	c.868T>C	c.(868-870)Ttc>Ctc	p.F290L	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	298					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	p.F290L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GGTGGCCGAGTTCCTGGCCAG	0.562000													3	65					0	0	1	0	0
ZNF813	126017	broad.mit.edu	37	19	53994890	53994890	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:53994890G>T	ENST00000396403.4	+	4	1532	c.1404G>T	c.(1402-1404)aaG>aaT	p.K468N	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K468N(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AACGTTACAAGTGTAATGAGT	0.413000													23	38					3.8784e-16	6.52842e-16	1	1	0
PTCHD2	57540	broad.mit.edu	37	1	11596579	11596579	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:11596579G>A	ENST00000294484.6	+	21	4153	c.4015G>A	c.(4015-4017)Gcc>Acc	p.A1339T	PTCHD2_ENST00000304391.6_Missense_Mutation_p.R225H|PTCHD2_ENST00000389575.3_Missense_Mutation_p.A1339T	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1339					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.A1556T(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGTCAGCACCGCCCTGCTGGG	0.642000													20	10					0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27401287	27401287	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:27401287G>T	ENST00000521400.1	+	17	1901	c.1471G>T	c.(1471-1473)Gtc>Ttc	p.V491F	EPHX2_ENST00000518379.1_Missense_Mutation_p.V459F|EPHX2_ENST00000380476.3_Missense_Mutation_p.V438F|EPHX2_ENST00000517536.1_Missense_Mutation_p.V308F|EPHX2_ENST00000521780.1_Missense_Mutation_p.V425F	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	491	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	p.V491F(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	GGCCCTGATGGTCACGGCGGA	0.597000													15	42					2.62699e-14	4.21209e-14	1	1	0
COL5A2	1290	broad.mit.edu	37	2	189922092	189922092	+	Missense_Mutation	SNP	G	G	C	rs150260969	byFrequency	TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:189922092G>C	ENST00000374866.3	-	34	2565	c.2291C>G	c.(2290-2292)cCg>cGg	p.P764R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	764					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.P764L(1)|p.P764R(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCTTTCTCCCGGCATACCTTG	0.438000													31	46					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63529993	63529993	+	Silent	SNP	A	A	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr18:63529993A>T	ENST00000536984.2	+	11	2398	c.1704A>T	c.(1702-1704)ggA>ggT	p.G568G	CDH7_ENST00000397968.2_Silent_p.G568G|CDH7_ENST00000323011.3_Silent_p.G568G			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	568	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G568G(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGGACAGTGGATCTCCCTCAC	0.512000													9	47					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43626651	43626651	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr9:43626651G>T	ENST00000332857.6	-	4	2064	c.2036C>A	c.(2035-2037)tCc>tAc	p.S679Y		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.S679Y(1)									CATGTCCCTGGATAGATTTTG	0.537000													19	81					2.61193e-14	4.20219e-14	1	1	0
C10orf71	118461	broad.mit.edu	37	10	50531444	50531444	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr10:50531444C>A	ENST00000374144.3	+	3	1142	c.854C>A	c.(853-855)cCa>cAa	p.P285Q	C10orf71_ENST00000323868.4_Missense_Mutation_p.P285Q			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	285								p.P285Q(2)		endometrium(1)	1						GCCCACCAACCAAAGCTGCTG	0.532000													4	14					0.184627	0.186999	1	1	0
DHRS7C	201140	broad.mit.edu	37	17	9694599	9694599	+	Translation_Start_Site	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:9694599C>A	ENST00000330255.4	-	1	15	c.3G>T	c.(1-3)atG>atT	p.M1I	DHRS7C_ENST00000571134.1_Start_Codon_SNP_p.M1I	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	1						extracellular region	binding|oxidoreductase activity	p.M1I(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CCATGACTCCCATCTTGTTCT	0.587000													6	8					0.0293803	0.0307454	1	1	0
AASDH	132949	broad.mit.edu	37	4	57220956	57220956	+	Silent	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:57220956C>A	ENST00000205214.6	-	7	1305	c.1125G>T	c.(1123-1125)ctG>ctT	p.L375L	AASDH_ENST00000451613.1_Silent_p.L375L|AASDH_ENST00000602986.1_Silent_p.L222L|AASDH_ENST00000502617.1_Silent_p.L375L|AASDH_ENST00000513376.1_Silent_p.L275L|AASDH_ENST00000434343.2_Intron	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	375					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	p.L375H(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GTGGAAATCCCAGTTGTACAG	0.313000													28	44					9.39395e-14	1.48607e-13	1	1	0
TMPRSS11B	132724	broad.mit.edu	37	4	69097025	69097025	+	Silent	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:69097025C>A	ENST00000332644.5	-	7	743	c.582G>T	c.(580-582)ggG>ggT	p.G194G		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	194	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.G194G(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						ATGGCCATGCCCCCTCCAGGG	0.493000													8	33					0.0381472	0.0398314	1	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68244368	68244368	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr14:68244368G>A	ENST00000347230.4	-	25	5020	c.4882C>T	c.(4882-4884)Cac>Tac	p.H1628Y	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.H1628Y	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1628					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.H1628Y(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCAAGAAGTGAGAAGTGGCC	0.527000													13	40					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35035391	35035391	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr5:35035391C>T	ENST00000231420.6	-	5	717	c.517G>A	c.(517-519)Gcc>Acc	p.A173T		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	173					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.A173T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	AGCTCATTGGCTTCTGAGCCA	0.423000													36	35					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38953436	38953436	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:38953436C>G	ENST00000306658.7	-	4	853	c.788G>C	c.(787-789)cGa>cCa	p.R263P		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	263	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.R263P(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GTACTCCGCTCGCATGTTGTT	0.632000													8	55					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241904910	241904910	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:241904910C>G	ENST00000366552.2	+	11	1591	c.1384C>G	c.(1384-1386)Ctt>Gtt	p.L462V	WDR64_ENST00000437684.2_Missense_Mutation_p.L462V	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	462								p.L182V(1)|p.L462V(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CAATGTCATGCTTTACAACAA	0.363000													14	28					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119132757	119132757	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr3:119132757A>G	ENST00000264245.4	+	12	2513	c.1981A>G	c.(1981-1983)Aaa>Gaa	p.K661E		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	661					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	p.K661E(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ACAGGAGCTGAAAATCATTGA	0.468000													25	60					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21771691	21771691	+	Silent	SNP	T	T	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr14:21771691T>A	ENST00000206660.6	+	5	789	c.789T>A	c.(787-789)gcT>gcA	p.A263A	RPGRIP1_ENST00000556336.1_Silent_p.A236A|RPGRIP1_ENST00000400017.2_Silent_p.A263A|RPGRIP1_ENST00000557771.1_Silent_p.A236A			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	263					response to stimulus|visual perception	cilium		p.A263A(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTCAGAAGGCTGCAGAGCTTC	0.438000													15	26					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228495021	228495021	+	Silent	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:228495021C>G	ENST00000570156.2	+	57	15200	c.15126C>G	c.(15124-15126)gcC>gcG	p.A5042A	OBSCN_ENST00000366709.4_Silent_p.A1204A|OBSCN_ENST00000284548.11_Silent_p.A4085A|OBSCN_ENST00000366707.4_Silent_p.A1719A|OBSCN_ENST00000422127.1_Silent_p.A4085A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4085					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.A4667A(1)|p.A4797A(1)|p.A4085A(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGACATAGCCCGGCTGTGCT	0.622000													14	27					0	0	1	0	0
POLDIP2	26073	broad.mit.edu	37	17	26680783	26680783	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:26680783C>A	ENST00000540200.1	-	5	372	c.373G>T	c.(373-375)Gtg>Ttg	p.V125L	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	126						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TTGCCTTTCACCTCCTTGGAG	0.542000													26	128					4.59853e-10	6.69263e-10	1	1	0
STAB2	55576	broad.mit.edu	37	12	104084208	104084208	+	Missense_Mutation	SNP	T	T	G	rs150834304		TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:104084208T>G	ENST00000388887.2	+	30	3393	c.3189T>G	c.(3187-3189)caT>caG	p.H1063Q		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1063	FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.H1063Q(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCAGGTACCATATGCTACTAG	0.433000													15	46					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884871	228884871	+	Splice_Site	SNP	A	A	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:228884871A>G	ENST00000392056.3	-	7	745	c.697_splice	c.e7-1	p.D233_splice	SPHKAP_ENST00000344657.5_Splice_Site_p.D233_splice	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	233						cytoplasm	protein binding	p.D233D(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TATTTTCATAATCTAGTGAGG	0.343000													8	129					0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11054013	11054013	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:11054013G>T	ENST00000295082.1	+	1	1951	c.1461G>T	c.(1459-1461)agG>agT	p.R487S		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	487						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R487S(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AGCACCACAGGACCCGGCTCC	0.642000													5	13					5.9392e-07	7.67552e-07	1	1	0
SLC5A8	160728	broad.mit.edu	37	12	101603528	101603528	+	Silent	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:101603528G>T	ENST00000536262.2	-	1	657	c.99C>A	c.(97-99)gcC>gcA	p.A33A		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	33					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.A33A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCCCAGCGAAGGCGTAGTAGA	0.657000													10	23					1.41608e-15	2.3668e-15	1	1	0
ZNF135	7694	broad.mit.edu	37	19	58578379	58578379	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:58578379C>A	ENST00000506786.1	+	5	955	c.401C>A	c.(400-402)cCa>cAa	p.P134Q	ZNF135_ENST00000313434.5_Missense_Mutation_p.P176Q|ZNF135_ENST00000401053.4_Missense_Mutation_p.P200Q|ZNF135_ENST00000359978.6_Missense_Mutation_p.P188Q|ZNF135_ENST00000511556.1_Missense_Mutation_p.P188Q|ZNF135_ENST00000439855.2_Missense_Mutation_p.P176Q			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	188					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.P200Q(1)|p.P176Q(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCTGATCTCCCACATCAACCA	0.512000													6	22					0.00116845	0.00130041	1	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232600634	232600634	+	Silent	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:232600634C>A	ENST00000366630.1	-	8	3130	c.2772G>T	c.(2770-2772)tcG>tcT	p.S924S	SIPA1L2_ENST00000262861.4_Silent_p.S924S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	924					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.S924S(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGTTGTCTACCGAGGACAGGA	0.413000													11	41					0.000219431	0.000253149	1	1	0
DACH2	117154	broad.mit.edu	37	X	85950113	85950113	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chrX:85950113G>C	ENST00000373131.1	+	4	986	c.823G>C	c.(823-825)Gct>Cct	p.A275P	DACH2_ENST00000510272.1_Missense_Mutation_p.A69P|DACH2_ENST00000373125.4_Missense_Mutation_p.A288P|DACH2_ENST00000508860.1_Missense_Mutation_p.A121P	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.A275P(1)|p.A288P(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TGCAGCCCTAGCTGGCCAGCC	0.498000													8	10					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081990	152081990	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:152081990C>A	ENST00000368804.1	-	2	3702	c.3703G>T	c.(3703-3705)Gtt>Ttt	p.V1235F		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1235					keratinization	cytoskeleton	calcium ion binding	p.V1235F(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTATCACGAACTGCATTTTCT	0.502000													19	57					5.35267e-07	6.93647e-07	1	1	0
SYBU	55638	broad.mit.edu	37	8	110587660	110587660	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:110587660C>G	ENST00000399066.3	-	6	2185	c.1458G>C	c.(1456-1458)caG>caC	p.Q486H	SYBU_ENST00000422135.1_Missense_Mutation_p.Q489H|SYBU_ENST00000433638.1_Missense_Mutation_p.Q489H|SYBU_ENST00000533895.1_Missense_Mutation_p.Q488H|SYBU_ENST00000424158.2_Missense_Mutation_p.Q494H|SYBU_ENST00000533065.1_Missense_Mutation_p.Q370H|SYBU_ENST00000528331.1_Missense_Mutation_p.Q370H|SYBU_ENST00000440310.1_Missense_Mutation_p.Q489H|SYBU_ENST00000408889.3_Missense_Mutation_p.Q370H|SYBU_ENST00000276646.9_Missense_Mutation_p.Q489H|SYBU_ENST00000528647.1_Missense_Mutation_p.Q488H|SYBU_ENST00000529690.1_Missense_Mutation_p.Q359H|SYBU_ENST00000419099.1_Missense_Mutation_p.Q488H|SYBU_ENST00000529175.1_Missense_Mutation_p.Q283H|SYBU_ENST00000533171.1_Missense_Mutation_p.Q489H|SYBU_ENST00000446070.2_Missense_Mutation_p.Q488H|SYBU_ENST00000408908.2_Missense_Mutation_p.Q489H|SYBU_ENST00000532779.1_Missense_Mutation_p.Q421H	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	489						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		p.Q486H(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CCACGTCGGTCTGAACGGCTC	0.622000													13	59					0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19738228	19738228	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr7:19738228C>A	ENST00000222567.5	-	4	798	c.728G>T	c.(727-729)gGt>gTt	p.G243V		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	243	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	p.G243V(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTTTGTGGTACCACTGTCCAC	0.433000													132	283					2.74825e-69	5.37159e-69	1	1	0
SMG8	55181	broad.mit.edu	37	17	57288128	57288128	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:57288128C>G	ENST00000543872.2	+	2	980	c.716C>G	c.(715-717)cCg>cGg	p.P239R	SMG8_ENST00000300917.5_Missense_Mutation_p.P239R|SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.P239R			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	239					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	p.P239R(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AAGGTCCTGCCGCTCCTTAAA	0.473000													14	28					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21990856	21990856	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:21990856C>A	ENST00000594012.1	-	7	2479	c.1965G>T	c.(1963-1965)tgG>tgT	p.W655C	ZNF43_ENST00000595461.1_Missense_Mutation_p.W655C|ZNF43_ENST00000598381.1_Missense_Mutation_p.W655C|ZNF43_ENST00000354959.4_Missense_Mutation_p.W661C	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W661C(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGGTTGAGGACCACTTAAAGG	0.373000													31	37					9.04072e-19	1.60762e-18	1	1	0
SOGA1	140710	broad.mit.edu	37	20	35443738	35443738	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr20:35443738C>A	ENST00000237536.4	-	5	2448	c.2107G>T	c.(2107-2109)Ggc>Tgc	p.G703C	SOGA1_ENST00000279034.5_Missense_Mutation_p.G465C|SOGA1_ENST00000357779.3_Missense_Mutation_p.G465C|SOGA1_ENST00000456801.2_Missense_Mutation_p.G306C	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	465								p.G703C(3)|p.G465C(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TCCCTGGGGCCCTCGCTGTTG	0.642000													7	10					1.26484e-09	1.81294e-09	1	1	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907513	12907513	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:12907513T>G	ENST00000317869.6	-	2	855	c.630A>C	c.(628-630)aaA>aaC	p.K210N		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1									p.K210N(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CTACCTCTTGTTTGCTCTGTT	0.448000													110	91					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10464888	10464888	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:10464888C>A	ENST00000382483.3	-	4	6943	c.6720G>T	c.(6718-6720)gaG>gaT	p.E2240D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2240					intracellular signal transduction			p.E2240D(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCCTTCTGACTCTGGCTGGG	0.597000													42	108					2.45108e-15	4.05371e-15	1	1	0
CEACAM6	4680	broad.mit.edu	37	19	42266086	42266086	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:42266086G>A	ENST00000199764.6	+	4	1131	c.913G>A	c.(913-915)Gcc>Acc	p.A305T	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	305	Ig-like C2-type 2.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		p.A305T(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCATAACTCAGCCACTGGCCT	0.473000													3	51					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636375	42636375	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:42636375G>T	ENST00000315323.3	+	1	1451	c.1319G>T	c.(1318-1320)cGc>cTc	p.R440L		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	440					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R440L(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCGCTCTTCCGCATCCGCACC	0.637000													15	52					1.99824e-07	2.64752e-07	1	1	0
NAA11	84779	broad.mit.edu	37	4	80246495	80246495	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:80246495C>A	ENST00000286794.4	-	1	709	c.537G>T	c.(535-537)gaG>gaT	p.E179D	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	179						cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	p.E179D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TGCCCTGGGTCTCCTGGTTCT	0.547000													17	27					9.16793e-09	1.28297e-08	1	1	0
PLEC	5339	broad.mit.edu	37	8	144997456	144997456	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:144997456G>A	ENST00000322810.4	-	31	7221	c.7052C>T	c.(7051-7053)gCg>gTg	p.A2351V	PLEC_ENST00000436759.2_Missense_Mutation_p.A2241V|PLEC_ENST00000354589.3_Missense_Mutation_p.A2214V|PLEC_ENST00000398774.2_Missense_Mutation_p.A2182V|PLEC_ENST00000357649.2_Missense_Mutation_p.A2218V|PLEC_ENST00000356346.3_Missense_Mutation_p.A2200V|PLEC_ENST00000354958.2_Missense_Mutation_p.A2192V|PLEC_ENST00000345136.3_Missense_Mutation_p.A2214V|PLEC_ENST00000527096.1_Missense_Mutation_p.A2237V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2351	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.A2214V(1)|p.A2241V(1)|p.A2351V(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGTGGCCTCCGCCTTCAGCCG	0.662000													9	15					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	6969151	6969151	+	Splice_Site	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:6969151G>T	ENST00000409757.4	+	3	967	c.843_splice	c.e3+1	p.K281_splice	TBC1D14_ENST00000410031.1_Splice_Site_p.K53_splice|TBC1D14_ENST00000448507.1_Splice_Site_p.K281_splice	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	281						intracellular	Rab GTPase activator activity	p.K281N(1)|p.K266N(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GAATACAGAAGGTACACAAGA	0.393000													8	31					5.18039e-06	6.38106e-06	1	1	0
AASDH	132949	broad.mit.edu	37	4	57220957	57220957	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:57220957A>T	ENST00000205214.6	-	7	1304	c.1124T>A	c.(1123-1125)cTg>cAg	p.L375Q	AASDH_ENST00000451613.1_Missense_Mutation_p.L375Q|AASDH_ENST00000602986.1_Missense_Mutation_p.L222Q|AASDH_ENST00000502617.1_Missense_Mutation_p.L375Q|AASDH_ENST00000513376.1_Missense_Mutation_p.L275Q|AASDH_ENST00000434343.2_Intron	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	375					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	p.L375H(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TGGAAATCCCAGTTGTACAGG	0.308000													27	44					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049834	9049834	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:9049834C>T	ENST00000397910.4	-	5	32000	c.31797G>A	c.(31795-31797)tgG>tgA	p.W10599*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10601	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.W10599*(1)|p.W6232*(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGGATAACCCATGAAGCTG	0.473000													22	31					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3474274	3474274	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:3474274G>T	ENST00000520002.1	-	8	1610	c.1055C>A	c.(1054-1056)cCt>cAt	p.P352H	CSMD1_ENST00000537824.1_Missense_Mutation_p.P352H|CSMD1_ENST00000602723.1_Missense_Mutation_p.P352H|CSMD1_ENST00000400186.3_Missense_Mutation_p.P352H|CSMD1_ENST00000602557.1_Missense_Mutation_p.P352H|CSMD1_ENST00000542608.1_Missense_Mutation_p.P352H|CSMD1_ENST00000539096.1_Missense_Mutation_p.P352H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	352	Sushi 2.					integral to membrane		p.P80H(1)|p.P352H(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGAATCCCAGGATCTGGACA	0.383000													11	26					7.93312e-07	1.0169e-06	1	1	0
LAMB4	22798	broad.mit.edu	37	7	107677874	107677874	+	Silent	SNP	T	T	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr7:107677874T>C	ENST00000388781.3	-	30	4721	c.4638A>G	c.(4636-4638)gcA>gcG	p.A1546A	LAMB4_ENST00000205386.4_Silent_p.A1546A|LAMB4_ENST00000483484.1_5'UTR|LAMB4_ENST00000388780.3_Silent_p.A1546A	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1546	Domain I.				cell adhesion	basement membrane		p.A1546A(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGGCTCCATCTGCTTCTTCAT	0.393000													71	92					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11319445	11319445	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:11319445C>A	ENST00000361445.4	-	2	98	c.22G>T	c.(22-24)Gcc>Tcc	p.A8S		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	8			A -> S (in a lung large cell carcinoma sample; somatic mutation).		cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.A8S(2)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GTGGTGGCGGCGGCAGGTCCG	0.507000													69	43					9.13743e-30	1.72191e-29	1	1	0
FAR2	55711	broad.mit.edu	37	12	29450055	29450055	+	Nonsense_Mutation	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:29450055C>G	ENST00000182377.4	+	4	735	c.467C>G	c.(466-468)tCa>tGa	p.S156*	FAR2_ENST00000536681.2_Nonsense_Mutation_p.S156*|FAR2_ENST00000547116.1_Nonsense_Mutation_p.S59*|RP11-996F15.2_ENST00000553105.1_RNA	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	156					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	p.S156*(1)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						ACTGCCTATTCAAATTGTAAC	0.433000													17	115					0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177608442	177608442	+	Silent	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:177608442G>A	ENST00000280193.2	-	6	1459	c.1044C>T	c.(1042-1044)ccC>ccT	p.P348P	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	348	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.P348P(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GTTGATTTCTGGGGCAGGTTC	0.438000													78	98					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427386	119427386	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:119427386G>T	ENST00000369429.3	-	8	1787	c.1778C>A	c.(1777-1779)tCc>tAc	p.S593Y	TBX15_ENST00000207157.3_Missense_Mutation_p.S487Y			Q96SF7	TBX15_HUMAN	T-box 15	593						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S487Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGGGAGGAGGAGCCTGGAAC	0.552000													26	45					2.65835e-16	4.52301e-16	1	1	0
TRAPPC8	22878	broad.mit.edu	37	18	29451056	29451056	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr18:29451056C>T	ENST00000283351.4	-	15	2425	c.2090G>A	c.(2089-2091)aGt>aAt	p.S697N	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.S643N	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	697					ER to Golgi vesicle-mediated transport	cis-Golgi network		p.S697N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTGATCAAGACTTACATGAGT	0.333000													4	27					0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29451058	29451058	+	Silent	SNP	T	T	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr18:29451058T>A	ENST00000283351.4	-	15	2423	c.2088A>T	c.(2086-2088)gtA>gtT	p.V696V	TRAPPC8_ENST00000582539.1_Silent_p.V642V	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	696					ER to Golgi vesicle-mediated transport	cis-Golgi network		p.V696V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GATCAAGACTTACATGAGTAG	0.338000													4	27					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19955296	19955296	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:19955296G>T	ENST00000396085.1	+	7	1867	c.1506G>T	c.(1504-1506)aaG>aaT	p.K502N	NAV2_ENST00000349880.4_Missense_Mutation_p.K502N|NAV2_ENST00000527559.2_Missense_Mutation_p.K454N|NAV2_ENST00000396087.3_Missense_Mutation_p.K525N|NAV2_ENST00000540292.1_Missense_Mutation_p.K456N|NAV2_ENST00000360655.4_Missense_Mutation_p.K438N	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	525						nucleus	ATP binding|helicase activity	p.K525N(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						agaaaagcaaggaCCTTGCCA	0.517000													17	40					1.02788e-11	1.54837e-11	1	1	0
PCDHA1	56147	broad.mit.edu	37	5	140167627	140167627	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr5:140167627G>T	ENST00000504120.2	+	1	1752	c.1752G>T	c.(1750-1752)ttG>ttT	p.L584F	PCDHA1_ENST00000378133.3_Missense_Mutation_p.L584F|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1												p.L584_V585>FL(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCGCGATTGGTGGGTGCGG	0.667000													15	63					4.7546e-09	6.71322e-09	1	1	0
PLCB1	23236	broad.mit.edu	37	20	8862318	8862318	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr20:8862318C>A	ENST00000338037.6	+	32	3500	c.3473C>A	c.(3472-3474)cCc>cAc	p.P1158H	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1158					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.P1158L(2)|p.P1158H(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAAAGACTGCCCCTCGAGATT	0.478000													21	114					2.89027e-11	4.32626e-11	1	1	0
CEP128	145508	broad.mit.edu	37	14	81244339	81244339	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr14:81244339C>G	ENST00000555265.1	-	16	2638	c.2263G>C	c.(2263-2265)Gag>Cag	p.E755Q	CEP128_ENST00000281129.3_Missense_Mutation_p.E755Q			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	755						centriole|spindle pole		p.E755Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTCAACTTCTCCAGCTGACCA	0.368000													6	70					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143550975	143550975	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr3:143550975G>C	ENST00000316549.6	-	2	472	c.264C>G	c.(262-264)ttC>ttG	p.F88L		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	88					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.F88L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TTGATGGACTGAAAGTTAGTT	0.333000													17	59					0	0	1	0	0
DEFB112	245915	broad.mit.edu	37	6	50016252	50016252	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:50016252G>T	ENST00000322246.4	-	1	112	c.113C>A	c.(112-114)aCa>aAa	p.T38K		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	38					defense response to bacterium	extracellular region		p.T38K(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TGTTTTACCTGTGCTGATTTT	0.328000													20	68					1.40151e-16	2.40186e-16	1	1	0
DLGAP2	9228	broad.mit.edu	37	8	1626405	1626405	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:1626405A>T	ENST00000421627.2	+	9	2208	c.2074A>T	c.(2074-2076)Agc>Tgc	p.S692C		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	771					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.S700C(1)|p.S736C(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACGTTCTAACAGCGTCACGGC	0.562000													20	52					0	0	1	0	0
RPA4	29935	broad.mit.edu	37	X	96139656	96139656	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chrX:96139656T>C	ENST00000373040.3	+	1	750	c.347T>C	c.(346-348)gTg>gCg	p.V116A	DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373054.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	116					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	p.V116A(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GTCAAGCAGGTGACTCCATTG	0.438000								Other identified genes with known or suspected DNA repair function					23	19					0	0	1	0	0
NGB	58157	broad.mit.edu	37	14	77737211	77737211	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr14:77737211C>A	ENST00000298352.4	-	1	444	c.70G>T	c.(70-72)Ggc>Tgc	p.G24C		NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	24	Globin.					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	p.G24C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		AGGACGGTGCCGTGCTCCAGC	0.751000													3	7					0.004672	0.00504533	1	1	0
DGKI	9162	broad.mit.edu	37	7	137270015	137270015	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr7:137270015G>C	ENST00000453654.1	-	14	1142	c.603C>G	c.(601-603)aaC>aaG	p.N201K	DGKI_ENST00000288490.5_Missense_Mutation_p.N501K|DGKI_ENST00000446122.1_Missense_Mutation_p.N501K|DGKI_ENST00000424189.2_Missense_Mutation_p.N501K			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	501					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.N501K(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCACATGGAGGTTCCAGCGAT	0.473000													30	42					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	31144138	31144138	+	Silent	SNP	T	T	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:31144138T>A	ENST00000543491.1	+	3	3435	c.3435T>A	c.(3433-3435)acT>acA	p.T1145T				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.T1090T(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGAAGTGCACTCGTGAGTGTG	0.522000													49	89					0	0	1	0	0
ZDHHC11	79844	broad.mit.edu	37	5	840719	840719	+	Silent	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr5:840719C>A	ENST00000283441.8	-	5	1058	c.675G>T	c.(673-675)ccG>ccT	p.P225P	ZDHHC11_ENST00000511539.1_Silent_p.P12P|ZDHHC11_ENST00000424784.2_Silent_p.P225P|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	225						integral to membrane	acyltransferase activity|zinc ion binding	p.P225P(2)		haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GCACCTGCACCGGGAACAGGG	0.582000													21	224					1.40151e-16	2.40186e-16	1	1	0
AFAP1L2	84632	broad.mit.edu	37	10	116064523	116064523	+	Nonsense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr10:116064523G>C	ENST00000369271.3	-	11	1539	c.1239C>G	c.(1237-1239)taC>taG	p.Y413*	AFAP1L2_ENST00000304129.4_Nonsense_Mutation_p.Y413*|AFAP1L2_ENST00000545353.1_Nonsense_Mutation_p.Y466*	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	413	PH 2.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	p.Y413*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TGCGGAAGGAGTAGAGGTGGT	0.687000													7	19					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295869	20295869	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr14:20295869G>C	ENST00000315947.1	+	1	262	c.262G>C	c.(262-264)Gcg>Ccg	p.A88P	OR4N2_ENST00000568211.1_Missense_Mutation_p.A88P	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A88P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTCCTCTCTGCGAAGAAGAT	0.517000													55	324					0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11994734	11994734	+	Silent	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:11994734G>T	ENST00000333796.3	-	1	1852	c.1536C>A	c.(1534-1536)acC>acA	p.T512T	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	512				T -> A (in Ref. 1; AAR91701).	apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.T512T(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGGATCTCCTGGTCCTCCCTT	0.562000													8	84					0.00829132	0.00891317	1	1	0
PTPRN	5798	broad.mit.edu	37	2	220161165	220161165	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:220161165C>A	ENST00000295718.2	-	17	2624	c.2384G>T	c.(2383-2385)tGg>tTg	p.W795L	PTPRN_ENST00000497977.1_5'UTR|PTPRN_ENST00000423636.2_Missense_Mutation_p.W705L|PTPRN_ENST00000409251.3_Missense_Mutation_p.W766L	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	795	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.W795L(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCCCACCTGCCAGAAGTCTGC	0.597000													14	41					1.15088e-07	1.53775e-07	1	1	0
ARHGEF7	8874	broad.mit.edu	37	13	111927998	111927998	+	Silent	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr13:111927998G>A	ENST00000375741.2	+	13	1705	c.1455G>A	c.(1453-1455)caG>caA	p.Q485Q	ARHGEF7_ENST00000544132.1_Silent_p.Q141Q|ARHGEF7_ENST00000370623.3_Silent_p.Q392Q|ARHGEF7_ENST00000426073.2_Silent_p.Q307Q|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000375723.1_Silent_p.Q307Q|ARHGEF7_ENST00000317133.5_Silent_p.Q464Q|ARHGEF7_ENST00000375736.4_Silent_p.Q307Q|ARHGEF7_ENST00000478679.1_Silent_p.Q229Q|ARHGEF7_ENST00000375737.5_Silent_p.Q382Q|ARHGEF7_ENST00000218789.5_Silent_p.Q307Q|ARHGEF7_ENST00000375739.2_Silent_p.Q435Q	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	485	PH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	p.Q307Q(1)|p.Q464Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ACATGTCCCAGGTCCTGATTC	0.527000													30	36					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53076548	53076548	+	Silent	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:53076548G>A	ENST00000276480.7	-	13	2081	c.1398C>T	c.(1396-1398)caC>caT	p.H466H		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	466						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H466H(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GTTCATACCTGTGGGCCTGGT	0.517000													13	61					0	0	1	0	0
KLHL35	283212	broad.mit.edu	37	11	75136592	75136592	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:75136592C>T	ENST00000539798.1	-	4	1219	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	KLHL35_ENST00000376292.4_Missense_Mutation_p.R187H	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	187								p.R407H(1)		lung(2)|stomach(1)	3						GCTGTGCAGGCGCCTCAGGCC	0.736000													3	2					0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111495395	111495395	+	Silent	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:111495395C>A	ENST00000369763.4	-	2	501	c.111G>T	c.(109-111)tcG>tcT	p.S37S	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_5'UTR	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	p.D38N(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TTTTTCCATCCGAGCCAATCG	0.343000													17	18					1.99824e-07	2.64752e-07	1	1	0
METTL24	728464	broad.mit.edu	37	6	110620165	110620165	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:110620165C>A	ENST00000338882.4	-	4	745	c.746G>T	c.(745-747)aGa>aTa	p.R249I		NM_001123364.1	NP_001116836.1	Q5JXM2	CF186_HUMAN	methyltransferase like 24	249						extracellular region		p.R249I(1)									TCCCAGTTTTCTGGTGTTGCT	0.418000													27	28					4.7796e-09	6.72843e-09	1	1	0
COL10A1	1300	broad.mit.edu	37	6	116442848	116442848	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:116442848G>T	ENST00000327673.4	-	2	838	c.431C>A	c.(430-432)cCt>cAt	p.P144H	AL121963.1_ENST00000430695.1_Missense_Mutation_p.G77C|NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.P144H			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	144	Triple-helical region.				skeletal system development	collagen	metal ion binding	p.P144H(1)		central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		AGGGATTCCAGGTGGTCCTGG	0.602000													13	20					1.5842e-08	2.2104e-08	1	1	0
GPR142	350383	broad.mit.edu	37	17	72367995	72367995	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:72367995C>A	ENST00000335666.4	+	4	693	c.645C>A	c.(643-645)ttC>ttA	p.F215L		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	215						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.F215L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						TCGCGGGCTTCCTCCTGCAGG	0.642000													6	17					0.00116845	0.00130041	1	1	0
MLC1	23209	broad.mit.edu	37	22	50515832	50515832	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr22:50515832T>C	ENST00000311597.5	-	6	1129	c.523A>G	c.(523-525)Aag>Gag	p.K175E	MLC1_ENST00000538737.1_Missense_Mutation_p.K141E|MLC1_ENST00000450140.2_Missense_Mutation_p.K123E|MLC1_ENST00000395876.2_Missense_Mutation_p.K175E|MLC1_ENST00000431262.2_Missense_Mutation_p.K145E|MLC1_ENST00000535444.1_Missense_Mutation_p.K96E	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	175	Poly-Lys.					basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	p.K175E(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GCACCCACCTTCTTTTTCTTG	0.632000													16	20					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174546	51174546	+	Silent	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr16:51174546G>T	ENST00000440970.1	-	2	1727	c.1296C>A	c.(1294-1296)ggC>ggA	p.G432G	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.G529G|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	529					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G529G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGATGGACATGCCATATGGGA	0.547000													18	58					4.96729e-08	6.75152e-08	1	1	0
SGK3	23678	broad.mit.edu	37	8	67763155	67763155	+	Splice_Site	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:67763155G>T	ENST00000396596.1	+	16	1534	c.1320_splice	c.e16+1	p.V440_splice	SGK3_ENST00000520976.1_Splice_Site_p.V408_splice|SGK3_ENST00000522398.1_Splice_Site_p.V440_splice|C8orf44-SGK3_ENST00000519289.1_Splice_Site_p.V440_splice|SGK3_ENST00000345714.4_Splice_Site_p.V440_splice|SGK3_ENST00000521198.2_Splice_Site_p.V440_splice	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	440	AGC-kinase C-terminal.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	p.V440V(1)|p.V373V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATCCTAATGTGGTAAGTATAT	0.333000													14	12					0.000219431	0.000253149	1	1	0
VCAN	1462	broad.mit.edu	37	5	82808109	82808109	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr5:82808109G>C	ENST00000265077.3	+	6	1501	c.936G>C	c.(934-936)agG>agC	p.R312S	VCAN_ENST00000343200.5_Missense_Mutation_p.R312S|VCAN_ENST00000502527.2_Missense_Mutation_p.R312S|VCAN_ENST00000512590.2_Missense_Mutation_p.R264S|VCAN_ENST00000513984.1_Missense_Mutation_p.R312S|VCAN_ENST00000342785.4_Missense_Mutation_p.R312S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	312	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.R312S(2)		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)		CTGTGGCCAGGGCCCAGTGTG	0.597000													3	16					0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409624	69409624	+	Splice_Site	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:69409624G>T	ENST00000303714.4	+	16	1507		c.e16-1			NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1						actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GTTTATTTTAGGTTCGTTGGG	0.413000									Familial Infantile Hemangioma				10	27					7.48243e-07	9.64357e-07	1	1	0
RRP12	23223	broad.mit.edu	37	10	99126615	99126615	+	Silent	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr10:99126615G>C	ENST00000370992.4	-	27	3210	c.3099C>G	c.(3097-3099)gtC>gtG	p.V1033V	RRP12_ENST00000414986.1_Silent_p.V972V|RRP12_ENST00000536831.1_Silent_p.V751V|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Silent_p.V933V	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1033						integral to membrane|nuclear membrane|nucleolus	protein binding	p.V1033V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCCGGATGTTGACCAGGACTC	0.637000													9	120					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11047558	11047558	+	RNA	SNP	T	T	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr21:11047558T>C	ENST00000470054.1	-	0	696									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTGTCACACGTATCACACACT	0.328000													26	491					0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7707105	7707105	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:7707105G>T	ENST00000441779.2	+	9	750	c.713G>T	c.(712-714)cGc>cTc	p.R238L	STXBP2_ENST00000414284.2_Missense_Mutation_p.R224L|STXBP2_ENST00000221283.5_Missense_Mutation_p.R227L	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	227					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	p.R227L(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						GAGAAAACCCGCTCCCAGCTG	0.632000													12	12					0.0167234	0.0175781	1	1	0
TMEM200A	114801	broad.mit.edu	37	6	130762587	130762587	+	Silent	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:130762587C>T	ENST00000392429.1	+	2	3398	c.1020C>T	c.(1018-1020)ccC>ccT	p.P340P	TMEM200A_ENST00000296978.3_Silent_p.P340P|TMEM200A_ENST00000545622.1_Silent_p.P340P	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	340						integral to membrane		p.P340P(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCTTCCAGCCCGTCAGCACAG	0.493000													23	30					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141750658	141750658	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr7:141750658C>A	ENST00000475668.2	+	24	2853	c.2799C>A	c.(2797-2799)aaC>aaA	p.N933K	MGAM_ENST00000549489.2_Missense_Mutation_p.N933K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	933					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.N933K(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGATTCTAACCTGAAGGTAA	0.423000													16	38					0.000566183	0.000643761	1	1	0
DLEC1	9940	broad.mit.edu	37	3	38136527	38136527	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr3:38136527G>T	ENST00000308059.6	+	13	2098	c.2077G>T	c.(2077-2079)Gac>Tac	p.D693Y	DLEC1_ENST00000346219.3_Missense_Mutation_p.D693Y|DLEC1_ENST00000452631.2_Missense_Mutation_p.D693Y			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	693					negative regulation of cell proliferation	cytoplasm		p.D693Y(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCCCCACACAGACCACGAGTT	0.527000													12	33					6.72482e-11	1.00026e-10	1	1	0
ZNF780B	163131	broad.mit.edu	37	19	40541581	40541581	+	Silent	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:40541581C>G	ENST00000434248.1	-	5	1250	c.1185G>C	c.(1183-1185)ggG>ggC	p.G395G	ZNF780B_ENST00000221355.6_Silent_p.G247G	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G395G(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TAAAGGACTTCCCACATTCTT	0.393000													35	96					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170070315	170070315	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:170070315C>A	ENST00000263816.3	-	36	6177	c.5892G>T	c.(5890-5892)tgG>tgT	p.W1964C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1964					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.W1964C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTGCAATTCCCCAGGGGTGGG	0.408000													29	149					2.65835e-16	4.52301e-16	1	1	0
NLRP8	126205	broad.mit.edu	37	19	56485022	56485022	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:56485022G>A	ENST00000291971.3	+	7	2610	c.2539G>A	c.(2539-2541)Gag>Aag	p.E847K	NLRP8_ENST00000590542.1_Intron	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	847						cytoplasm	ATP binding	p.E847K(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCATAGGATAGAGAACTGCAA	0.507000													33	184					0	0	1	0	0
TRAF2	7186	broad.mit.edu	37	9	139815544	139815544	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr9:139815544G>C	ENST00000359662.3	+	9	1216	c.1171G>C	c.(1171-1173)Gag>Cag	p.E391Q	TRAF2_ENST00000536468.1_Missense_Mutation_p.E339Q|TRAF2_ENST00000247668.2_Missense_Mutation_p.E339Q			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	339	MATH.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	p.E339Q(1)		breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GGCTGACTTGGAGCAGAAGGT	0.612000													13	20					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140718872	140718872	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr5:140718872G>T	ENST00000394576.2	+	1	334	c.334G>T	c.(334-336)Gat>Tat	p.D112Y	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.D112Y(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCTGGAGGATAAATTGAC	0.473000													9	36					1.12685e-05	1.37018e-05	1	1	0
ASCC3	10973	broad.mit.edu	37	6	101248359	101248359	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:101248359C>A	ENST00000369162.2	-	6	1288	c.944G>T	c.(943-945)gGa>gTa	p.G315V	ASCC3_ENST00000522650.1_Missense_Mutation_p.G315V	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.G315V(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AGCATTTTCTCCTAAAATTTT	0.294000													8	14					0.000157383	0.000182905	1	1	0
ZC3H4	23211	broad.mit.edu	37	19	47584880	47584880	+	Splice_Site	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:47584880G>A	ENST00000253048.5	-	11	1368		c.e11-1		ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4								nucleic acid binding|zinc ion binding	p.?(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGGAAATCACGTTCATGGCAA	0.517000													6	21					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169213030	169213030	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:169213030C>A	ENST00000393743.3	-	8	1201	c.910G>T	c.(910-912)Gag>Tag	p.E304*		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	304							ATP binding|ATP-dependent helicase activity|RNA binding	p.E304*(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TCTTCCATCTCCTGCAGGGTT	0.418000													9	16					9.70103e-10	1.39471e-09	1	1	0
SAP130	79595	broad.mit.edu	37	2	128775259	128775259	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:128775259T>G	ENST00000357702.5	-	3	552	c.421A>C	c.(421-423)Atg>Ctg	p.M141L	SAP130_ENST00000259234.6_Missense_Mutation_p.M115L|SAP130_ENST00000259235.3_Missense_Mutation_p.M141L	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	141	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	p.M141L(2)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ATTACCTTCATAAGTCCCTCC	0.483000													6	48					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43996080	43996080	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr22:43996080G>C	ENST00000262726.7	-	23	2998	c.2745C>G	c.(2743-2745)aaC>aaG	p.N915K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.N763K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	915	EF-hand 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.N915K(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CAGGCGAATAGTTAATACCCA	0.423000													36	149					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35930851	35930851	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:35930851C>G	ENST00000339208.6	-	10	1372	c.1232G>C	c.(1231-1233)gGc>gCc	p.G411A	SYNRG_ENST00000502449.2_Missense_Mutation_p.G333A|SYNRG_ENST00000394378.2_Missense_Mutation_p.G333A|SYNRG_ENST00000346661.4_Missense_Mutation_p.G411A|SYNRG_ENST00000345615.4_Missense_Mutation_p.G333A|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000585472.1_Missense_Mutation_p.G332A|SYNRG_ENST00000588194.1_5'UTR	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	411					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	p.G411A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGGCATGGAGCCCGCAGGACC	0.542000													8	40					0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56348550	56348550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr18:56348550C>T	ENST00000348428.3	+	2	616	c.358C>T	c.(358-360)Cag>Tag	p.Q120*	MALT1_ENST00000345724.3_Nonsense_Mutation_p.Q120*|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	120	Death.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	p.Q120*(1)		central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TGAAGTTCTTCAGCTTCTCAG	0.448000			T	BIRC3	MALT								32	22					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60182961	60182961	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:60182961C>A	ENST00000300187.6	+	5	797	c.520C>A	c.(520-522)Cca>Aca	p.P174T	MS4A14_ENST00000531783.1_Missense_Mutation_p.P207T|MS4A14_ENST00000395005.2_Missense_Mutation_p.P157T|MS4A14_ENST00000531787.1_Missense_Mutation_p.P62T|MS4A14_ENST00000395001.1_3'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	174						integral to membrane	receptor activity	p.P174T(2)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ACAACCTGCCCCAGAAGAAAA	0.358000													21	64					1.00905e-13	1.59093e-13	1	1	0
SERPINA3	12	broad.mit.edu	37	14	95081151	95081151	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr14:95081151A>T	ENST00000553947.1	+	5	1336	c.448A>T	c.(448-450)Acc>Tcc	p.T150S	SERPINA3_ENST00000393080.4_Missense_Mutation_p.T125S|SERPINA3_ENST00000467132.1_Missense_Mutation_p.T125S|SERPINA3_ENST00000393078.3_Missense_Mutation_p.T125S|SERPINA3_ENST00000556388.1_Intron			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	125					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.T125S(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CCTCCTGCGCACCCTCAATCA	0.517000													5	32					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	447274	447274	+	Missense_Mutation	SNP	G	G	T	rs77982207	by1000genomes	TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr3:447274G>T	ENST00000256509.2	+	28	4197	c.3555G>T	c.(3553-3555)gaG>gaT	p.E1185D	CHL1_ENST00000397491.2_Missense_Mutation_p.E1169D	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1169					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.E1185D(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AATACGGAGAGGGAGACCATG	0.463000													10	44					2.17888e-05	2.62241e-05	1	1	0
ABCB11	8647	broad.mit.edu	37	2	169792773	169792773	+	Silent	SNP	A	A	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:169792773A>T	ENST00000263817.6	-	22	2905	c.2781T>A	c.(2779-2781)tcT>tcA	p.S927S		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	927	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	p.S927S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GCTTATCTCGAGAGGCAAATC	0.483000													48	23					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651629	84651629	+	Silent	SNP	A	A	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr15:84651629A>T	ENST00000286744.5	+	21	3473	c.3249A>T	c.(3247-3249)gcA>gcT	p.A1083A	ADAMTSL3_ENST00000567476.1_Silent_p.A1083A	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1083						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.A1083A(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGAAGCAGCAGTTAAACAAG	0.463000													6	61					0	0	1	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967515	142967515	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chrX:142967515G>C	ENST00000370494.1	+	1	343	c.313G>C	c.(313-315)Gtt>Ctt	p.V105L		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	105							acid-amino acid ligase activity	p.V105L(1)|p.V105I(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GATCCGCACAGTTCTGCTATC	0.423000													18	31					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96167535	96167535	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chrX:96167535C>T	ENST00000324765.8	+	7	1063	c.716C>T	c.(715-717)gCa>gTa	p.A239V	DIAPH2_ENST00000373061.3_Missense_Mutation_p.A239V|DIAPH2_ENST00000373049.4_Missense_Mutation_p.A239V|DIAPH2_ENST00000355827.4_Missense_Mutation_p.A239V|DIAPH2_ENST00000373054.4_Missense_Mutation_p.A235V			O60879	DIAP2_HUMAN	diaphanous-related formin 2	239	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	p.A239V(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TGCCTCAAAGCATTTATGAAT	0.299000													5	9					0	0	1	0	0
GATC	283459	broad.mit.edu	37	12	120884582	120884582	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:120884582C>T	ENST00000551806.1	+	3	298	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	GATC_ENST00000551765.1_Silent_p.R68R														p.R68L(1)									ACCGGCTACGCGCCGTGGACA	0.667000													13	47					0	0	1	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36248704	36248704	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:36248704C>T	ENST00000315571.5	+	5	545	c.524C>T	c.(523-525)gCc>gTc	p.A175V	LDLRAD3_ENST00000529759.1_3'UTR|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.A165V|LDLRAD3_ENST00000528989.1_Missense_Mutation_p.A126V	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	175						integral to membrane	receptor activity	p.A175V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				ATCACCTATGCCATCATCGGC	0.552000													21	84					0	0	1	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89916817	89916817	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:89916817C>T	ENST00000548729.1	-	3	1803	c.1501G>A	c.(1501-1503)Gca>Aca	p.A501T	POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.A332T|GALNT4_ENST00000529983.2_Missense_Mutation_p.A504T|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000313546.3_Intron	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1												p.A504T(1)									GGTACCTCTGCACATAACTCT	0.368000													9	27					0	0	1	0	0
MVD	4597	broad.mit.edu	37	16	88722590	88722590	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr16:88722590C>A	ENST00000301012.3	-	5	555	c.526G>T	c.(526-528)Gcc>Tcc	p.A176S	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	176					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity	p.A176S(1)		endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TTCCCGTCGGCCTGCTCTCCC	0.672000													22	49					6.44725e-10	9.32584e-10	1	1	0
COL4A1	1282	broad.mit.edu	37	13	110807653	110807653	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr13:110807653A>T	ENST00000375820.4	-	50	4853	c.4732T>A	c.(4732-4734)Tgg>Agg	p.W1578R		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1578	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.W1578R(1)|p.W1221R(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TAGCCGATCCACAGCGAGGAC	0.612000													13	12					0	0	1	0	0
HOXC10	3226	broad.mit.edu	37	12	54379688	54379688	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:54379688G>T	ENST00000303460.4	+	1	719	c.645G>T	c.(643-645)aaG>aaT	p.K215N		NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	215					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K215N(1)		endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						ATGAAATCAAGACGGAGCAGA	0.627000													15	32					4.7546e-09	6.71322e-09	1	1	0
AVPR1A	552	broad.mit.edu	37	12	63544414	63544414	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:63544414C>A	ENST00000299178.2	-	1	308	c.203G>T	c.(202-204)gGc>gTc	p.G68V		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	68					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.G68V(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCTGCTGTTGCCCAGCACGGC	0.687000													15	37					3.27435e-08	4.47621e-08	1	1	0
ARHGAP1	392	broad.mit.edu	37	11	46702216	46702216	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:46702216G>T	ENST00000311956.4	-	8	814	c.717C>A	c.(715-717)aaC>aaA	p.N239K		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	239					Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity	p.N239K(1)		endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		CAAACTGCTGGTTGGGCAGGG	0.642000													8	20					5.18039e-06	6.38106e-06	1	1	0
NARS2	79731	broad.mit.edu	37	11	78204204	78204204	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:78204204G>C	ENST00000281038.5	-	7	1102	c.727C>G	c.(727-729)Cga>Gga	p.R243G	NARS2_ENST00000528850.1_Missense_Mutation_p.R16G	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	243					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	p.R243G(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TTTTCAGCTCGGAAGGTCGGA	0.373000													8	74					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112356221	112356221	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr10:112356221G>A	ENST00000361804.4	+	19	2155	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	677					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	p.E677K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GTCTCGACTTGAATTGCAAAA	0.378000													11	70					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42275403	42275403	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:42275403C>G	ENST00000342228.3	-	11	2246	c.1877G>C	c.(1876-1878)tGg>tCg	p.W626S	SLC20A2_ENST00000520262.1_Missense_Mutation_p.W626S|SLC20A2_ENST00000520179.1_Missense_Mutation_p.W626S	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	626					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.W626S(1)		breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGTCACGAACCAGGCCACGAA	0.592000													14	49					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	701983	701983	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr16:701983C>A	ENST00000549091.1	+	9	1089	c.997C>A	c.(997-999)Cac>Aac	p.H333N	WDR90_ENST00000293879.4_Missense_Mutation_p.H333N	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	333								p.H333N(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TGCCGGCACCCACGTGTTGAC	0.692000													3	9					1	1	1	1	0
PLCE1	51196	broad.mit.edu	37	10	95994067	95994067	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr10:95994067G>T	ENST00000260766.3	+	6	2846	c.2212G>T	c.(2212-2214)Gag>Tag	p.E738*	PLCE1_ENST00000371385.3_Nonsense_Mutation_p.E430*|PLCE1_ENST00000371380.2_Nonsense_Mutation_p.E738*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.E430*	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	738	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.E738*(1)|p.E430*(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGAAACTTTAGAGGTAAGGCC	0.507000													8	33					5.18039e-06	6.38106e-06	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168099625	168099625	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:168099625C>A	ENST00000409195.1	+	9	1812	c.1723C>A	c.(1723-1725)Cag>Aag	p.Q575K	XIRP2_ENST00000295237.9_Missense_Mutation_p.Q575K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q353K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	400					actin cytoskeleton organization	cell junction	actin binding	p.Q575K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGGAGAGGTGCAGTCCATTAG	0.403000													113	38					2.20344e-50	4.2367e-50	1	1	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857070	19857070	+	RNA	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr14:19857070G>T	ENST00000548109.1	+	0	72																											CCACCAACCAGCTGAAAGTAA	0.343000													8	65					0.307466	0.310088	1	1	0
AHSG	197	broad.mit.edu	37	3	186338505	186338505	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr3:186338505C>A	ENST00000411641.2	+	7	1109	c.890C>A	c.(889-891)tCc>tAc	p.S297Y	AHSG_ENST00000273784.5_Missense_Mutation_p.S298Y			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	297					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	p.S297Y(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCCCCAGACTCCCATGTGTTA	0.637000													45	90					6.18754e-15	1.0127e-14	1	1	0
IGSF10	285313	broad.mit.edu	37	3	151165710	151165710	+	Missense_Mutation	SNP	T	T	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr3:151165710T>G	ENST00000282466.3	-	4	2058	c.2059A>C	c.(2059-2061)Att>Ctt	p.I687L		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	687					cell differentiation|multicellular organismal development|ossification	extracellular region		p.I687L(1)		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)			AGATGAGCAATAGGATTGGAC	0.458000													19	30					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74502911	74502911	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr16:74502911T>A	ENST00000422840.2	-	17	2368	c.2369A>T	c.(2368-2370)cAg>cTg	p.Q790L	GLG1_ENST00000447066.2_Missense_Mutation_p.Q779L|GLG1_ENST00000205061.5_Missense_Mutation_p.Q790L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	790						Golgi membrane|integral to membrane	receptor binding	p.Q790L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CTTGGCTTCCTGCAGAGTGTC	0.612000													9	32					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35699425	35699425	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr9:35699425G>A	ENST00000314888.9	-	51	7155	c.6802C>T	c.(6802-6804)Cag>Tag	p.Q2268*	TLN1_ENST00000540444.1_Nonsense_Mutation_p.Q2156*	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2268					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	p.Q2268*(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTGTCAACTGCTGCTTCAGT	0.557000													3	27					0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27360443	27360443	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:27360443C>A	ENST00000335524.3	-	3	1280	c.755G>T	c.(754-756)tGc>tTc	p.C252F		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	252								p.C252F(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACACCAGGCATATAGGATA	0.662000													10	12					9.31168e-06	1.13809e-05	1	1	0
OR8I2	120586	broad.mit.edu	37	11	55860845	55860845	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:55860845C>G	ENST00000302124.2	+	1	93	c.62C>G	c.(61-63)cCt>cGt	p.P21R	OR8I2_ENST00000560768.1_Missense_Mutation_p.P21R			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P21R(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCAAATCACCCTGAATTACAA	0.403000													39	137					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510579	56510579	+	Missense_Mutation	SNP	G	G	A	rs142738268	by1000genomes	TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:56510579G>A	ENST00000302957.3	-	1	708	c.709C>T	c.(709-711)Ctc>Ttc	p.L237F		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L237F(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATAGCCAGGAGGATGTTGACA	0.483000													16	44					0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52695778	52695778	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:52695778C>A	ENST00000293525.5	+	1	130	c.78C>A	c.(76-78)tgC>tgA	p.C26*	KRT86_ENST00000544024.1_Nonsense_Mutation_p.C26*|KRT86_ENST00000423955.2_Nonsense_Mutation_p.C26*	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	26	Head.				cytoskeleton organization	keratin filament	structural molecule activity	p.C26*(1)		breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCGCTGCTGCATCACCGCCG	0.692000													21	42					3.08376e-08	4.22788e-08	1	1	0
ITSN1	6453	broad.mit.edu	37	21	35183407	35183407	+	Silent	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr21:35183407G>T	ENST00000381318.3	+	21	2736	c.2448G>T	c.(2446-2448)gtG>gtT	p.V816V	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Silent_p.V811V|ITSN1_ENST00000399352.1_Silent_p.V811V|ITSN1_ENST00000399353.1_Silent_p.V774V|ITSN1_ENST00000437442.2_Silent_p.V811V|ITSN1_ENST00000399355.2_Silent_p.V816V|ITSN1_ENST00000381285.4_Silent_p.V816V|ITSN1_ENST00000399338.4_Silent_p.V811V|ITSN1_ENST00000381291.4_Silent_p.V816V|ITSN1_ENST00000399367.3_Silent_p.V811V|ITSN1_ENST00000379960.5_Silent_p.V811V|ITSN1_ENST00000399326.3_Silent_p.V811V	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	816					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.V816V(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGAAACCAGTGACTGATTCAA	0.532000													13	41					0.00185496	0.00204045	1	1	0
FASTKD1	79675	broad.mit.edu	37	2	170428301	170428301	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:170428301T>A	ENST00000453153.2	-	2	585	c.239A>T	c.(238-240)aAg>aTg	p.K80M	FASTKD1_ENST00000453929.2_Missense_Mutation_p.K80M	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	80					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.K80M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GGTCTTCTGCTTTTGAAGCTT	0.338000													45	52					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039485	31039485	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:31039485C>T	ENST00000355537.3	+	4	3106	c.2959C>T	c.(2959-2961)Ctc>Ttc	p.L987F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	987					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.L987F(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGCCGCCTCCCTCCCGGGCTC	0.572000													17	81					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167689182	167689182	+	Silent	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr5:167689182C>A	ENST00000519204.1	+	28	7447	c.7329C>A	c.(7327-7329)acC>acA	p.T2443T	TENM2_ENST00000520394.1_Silent_p.T2325T|TENM2_ENST00000403607.2_Silent_p.T2388T|TENM2_ENST00000518659.1_Silent_p.T2564T|TENM2_ENST00000545108.1_Silent_p.T2563T					teneurin transmembrane protein 2									p.T2397T(1)|p.T2443T(1)|p.T2564T(1)									TTGCCACCACCACGCCCATCA	0.552000													4	5					0.000602214	0.000679827	1	1	0
UPRT	139596	broad.mit.edu	37	X	74519631	74519631	+	Silent	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chrX:74519631G>T	ENST00000373379.1	+	5	789	c.624G>T	c.(622-624)ctG>ctT	p.L208L	UPRT_ENST00000530743.1_Silent_p.L72L|UPRT_ENST00000373383.4_Silent_p.L208L			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	208					nucleoside metabolic process	cytoplasm|nucleus		p.L208L(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						GAAAGATCCTGATTCAGAGTG	0.403000													38	22					3.62531e-18	6.3984e-18	1	1	0
SPPL2A	84888	broad.mit.edu	37	15	51041888	51041888	+	Missense_Mutation	SNP	T	T	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr15:51041888T>C	ENST00000261854.5	-	2	396	c.122A>G	c.(121-123)tAc>tGc	p.Y41C	RP11-507J18.2_ENST00000558317.1_RNA	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	41						integral to membrane	aspartic-type endopeptidase activity	p.Y41C(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		AAGCATGCAGTAGTCCTTGGT	0.393000													39	55					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836174	43836174	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr20:43836174C>A	ENST00000372781.3	+	2	293	c.236C>A	c.(235-237)tCc>tAc	p.S79Y	SEMG1_ENST00000244069.6_Missense_Mutation_p.S79Y	NM_003007.3	NP_002998.1			semenogelin I									p.S79Y(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CATGACCAGTCCCGAAAAAGT	0.383000													15	68					0.00244969	0.00266369	1	1	0
ACOX3	8310	broad.mit.edu	37	4	8418235	8418235	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:8418235A>G	ENST00000356406.5	-	2	91	c.14T>C	c.(13-15)gTg>gCg	p.V5A	ACOX3_ENST00000413009.2_Missense_Mutation_p.V5A|ACOX3_ENST00000503233.1_Missense_Mutation_p.V5A	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	5					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.V5A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCCTCCTTCCACAGTGGATGC	0.577000													3	34					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191856010	191856010	+	Silent	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:191856010C>A	ENST00000361099.3	-	11	1368	c.981G>T	c.(979-981)acG>acT	p.T327T	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.T327T|STAT1_ENST00000392322.3_Silent_p.T327T|STAT1_ENST00000392323.2_Silent_p.T329T	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	327					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	p.T327T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TCTGAGGGTGCGTTGGCATGC	0.493000													11	13					0.00136819	0.00151205	1	1	0
DCHS2	54798	broad.mit.edu	37	4	155312364	155312364	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:155312364C>G	ENST00000357232.3	-	1	85	c.86G>C	c.(85-87)tGt>tCt	p.C29S	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	29					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.C29S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTCATATACACAGGCATCAGT	0.323000													11	12					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466260	10466260	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:10466260G>T	ENST00000382483.3	-	4	5571	c.5348C>A	c.(5347-5349)gCg>gAg	p.A1783E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1783					intracellular signal transduction			p.A1783E(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCACTGCCCGCACTGGTTTC	0.557000													51	141					1.4709e-25	2.73912e-25	1	1	0
RALGAPB	57148	broad.mit.edu	37	20	37126060	37126060	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr20:37126060G>T	ENST00000262879.6	+	4	738	c.454G>T	c.(454-456)Gcc>Tcc	p.A152S	RALGAPB_ENST00000397042.3_Missense_Mutation_p.A152S|RALGAPB_ENST00000397040.1_Missense_Mutation_p.A152S|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000537204.1_Missense_Mutation_p.A152S			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	152					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.A152S(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCAGAAACTGGCCCGTGAGTC	0.488000													23	62					0.000375601	0.000429129	1	1	0
UNC79	57578	broad.mit.edu	37	14	94079385	94079385	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr14:94079385C>G	ENST00000553484.1	+	28	4217	c.4063C>G	c.(4063-4065)Cgc>Ggc	p.R1355G	UNC79_ENST00000393151.2_Missense_Mutation_p.R1333G|UNC79_ENST00000555664.1_Missense_Mutation_p.R1333G|UNC79_ENST00000256339.4_Missense_Mutation_p.R1156G			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1333						integral to membrane		p.R1355G(1)|p.R1156G(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCAAAAAATGCGCCTGTCAAC	0.443000													8	53					0	0	1	0	0
CAAP1	79886	broad.mit.edu	37	9	26861082	26861082	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr9:26861082C>A	ENST00000333916.5	-	5	809	c.721G>T	c.(721-723)Ggt>Tgt	p.G241C	CAAP1_ENST00000520187.1_Intron|CAAP1_ENST00000535437.1_Missense_Mutation_p.G96C	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CI082_HUMAN	caspase activity and apoptosis inhibitor 1	241								p.G241C(1)									AATTCCAAACCTTCAGGTTGC	0.303000													17	73					2.23348e-06	2.80222e-06	1	1	0
CCDC88A	55704	broad.mit.edu	37	2	55582735	55582735	+	Silent	SNP	T	T	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:55582735T>A	ENST00000436346.1	-	8	1621	c.780A>T	c.(778-780)atA>atT	p.I260I	CCDC88A_ENST00000413716.2_Silent_p.I260I|CCDC88A_ENST00000263630.8_Silent_p.I260I|CCDC88A_ENST00000336838.6_Silent_p.I260I	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	260					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.I260I(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TAAGCCTTCTTATCTTGGCTT	0.423000													27	62					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	38					0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69111384	69111384	+	Translation_Start_Site	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:69111384C>A	ENST00000332644.5	-	0	54					NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B						proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AAGTTAGAACCTTCTGACGCA	0.393000													19	14					7.07596e-05	8.36732e-05	1	1	0
IGLV1-44	28823	broad.mit.edu	37	22	22735569	22735569	+	RNA	SNP	A	A	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr22:22735569A>G	ENST00000390297.2	+	0	320																											CTCCTCATCTATAGTAATAAT	0.552000													4	97					0	0	1	0	0
TRMT6	51605	broad.mit.edu	37	20	5921898	5921898	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr20:5921898C>A	ENST00000203001.2	-	9	1336	c.1206G>T	c.(1204-1206)caG>caT	p.Q402H	TRMT6_ENST00000453074.2_Missense_Mutation_p.Q232H|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	402					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	p.Q402H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						CCTCTTTGTACTGACAGTAGA	0.443000													14	62					0.000151284	0.000177123	1	1	0
TMTC1	83857	broad.mit.edu	37	12	29786214	29786214	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:29786214C>G	ENST00000256062.5	-	6	1143	c.670G>C	c.(670-672)Gtg>Ctg	p.V224L	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000539277.1_Missense_Mutation_p.V332L|TMTC1_ENST00000381224.2_Missense_Mutation_p.V286L|TMTC1_ENST00000552618.1_Missense_Mutation_p.V394L|TMTC1_ENST00000551659.1_Missense_Mutation_p.V394L	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	332						integral to membrane	binding	p.V224L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CACAGGGTCACGGGTGCAAGC	0.498000													6	33					0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551538	248551538	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:248551538C>A	ENST00000355728.2	+	1	629	c.629C>A	c.(628-630)cCc>cAc	p.P210H		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P210H(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			CTGCTGATCCCCTTCTCGGTG	0.527000													19	34					1.37657e-19	2.45704e-19	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134084245	134084245	+	Missense_Mutation	SNP	A	A	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:134084245A>G	ENST00000264360.4	+	4	3737	c.2911A>G	c.(2911-2913)Agc>Ggc	p.S971G		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	971					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S971G(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGATTATCGCAGCAATCTGCA	0.537000													29	39					0	0	1	0	0
LIG3	3980	broad.mit.edu	37	17	33319597	33319597	+	Silent	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:33319597G>A	ENST00000378526.4	+	8	1474	c.1341G>A	c.(1339-1341)ctG>ctA	p.L447L	LIG3_ENST00000262327.5_Silent_p.L447L	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	447					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	p.L447L(1)|p.L360L(1)		endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CGCGCAACCTGCAGGATGTGG	0.587000								Other BER factors					16	40					0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154294481	154294481	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:154294481C>A	ENST00000484864.1	+	2	214	c.178C>A	c.(178-180)Ctg>Atg	p.L60M	AQP10_ENST00000324978.3_Missense_Mutation_p.L60M|AQP10_ENST00000355197.4_Intron			Q96PS8	AQP10_HUMAN	aquaporin 10	60					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	p.L60M(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACCATGTTTCTGGCTGGCTC	0.562000													3	21					1	1	1	1	0
ARHGAP6	395	broad.mit.edu	37	X	11197549	11197549	+	Silent	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chrX:11197549C>G	ENST00000337414.4	-	7	2225	c.1353G>C	c.(1351-1353)ggG>ggC	p.G451G	ARHGAP6_ENST00000534860.1_Silent_p.G276G|ARHGAP6_ENST00000380732.3_Silent_p.G483G|ARHGAP6_ENST00000380736.1_Silent_p.G248G|ARHGAP6_ENST00000380718.1_Silent_p.G451G|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000303025.6_Silent_p.G248G|ARHGAP6_ENST00000413512.3_Silent_p.G260G	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	451	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.G451G(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGACATCAATCCCACGGTCAA	0.527000													23	16					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73811802	73811802	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chrX:73811802C>A	ENST00000332687.6	-	4	1566	c.1348G>T	c.(1348-1350)Ggt>Tgt	p.G450C	RLIM_ENST00000349225.2_Missense_Mutation_p.G450C	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	450	Ser-rich.				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.G450C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTACCACCACCAGAACCTCCT	0.488000													35	20					1.69901e-12	2.6092e-12	1	1	0
HERC2P2	400322	broad.mit.edu	37	15	23330139	23330139	+	RNA	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr15:23330139C>A	ENST00000560464.1	-	0	1398																											AAGAACGGCCCTGTTCTTGAT	0.378000													21	26					8.24728e-16	1.38332e-15	1	1	0
CPT1C	126129	broad.mit.edu	37	19	50208532	50208532	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:50208532C>A	ENST00000392518.4	+	10	1313	c.941C>A	c.(940-942)aCg>aAg	p.T314K	CPT1C_ENST00000405931.2_Missense_Mutation_p.T303K|CPT1C_ENST00000323446.5_Missense_Mutation_p.T314K|CPT1C_ENST00000598293.1_Missense_Mutation_p.T314K|CPT1C_ENST00000354199.5_Missense_Mutation_p.T314K	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	314					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.T314K(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TTCAACACCACGCGGATTCCA	0.552000													20	70					3.7963e-18	6.67529e-18	1	1	0
ASTN2	23245	broad.mit.edu	37	9	119770436	119770436	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr9:119770436C>A	ENST00000313400.4	-	7	1626	c.1526G>T	c.(1525-1527)tGg>tTg	p.W509L	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.W458L|ASTN2_ENST00000373996.3_Missense_Mutation_p.W509L			O75129	ASTN2_HUMAN	astrotactin 2	509						integral to membrane		p.W458F(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GTCCCTCACCCATGGGGAGGT	0.577000													16	12					0.00887093	0.00951463	1	1	0
KDM5B	10765	broad.mit.edu	37	1	202722038	202722038	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:202722038C>A	ENST00000367265.3	-	12	2860	c.1696G>T	c.(1696-1698)Gtg>Ttg	p.V566L	KDM5B_ENST00000367264.2_Missense_Mutation_p.V602L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	566	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.V566L(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CATACAGGCACTTCATGAGTC	0.418000													3	34					0.00909568	0.00968977	1	1	0
BPIFA1	51297	broad.mit.edu	37	20	31825664	31825664	+	Silent	SNP	A	A	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr20:31825664A>G	ENST00000354297.4	+	2	218	c.147A>G	c.(145-147)ggA>ggG	p.G49G	BPIFA1_ENST00000375413.4_Silent_p.G49G|BPIFA1_ENST00000375422.2_Silent_p.G49G	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	49					innate immune response	extracellular region	lipid binding	p.G49G(1)									GTCTTGCAGGAAGCTTGACAA	0.557000													7	36					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3000045	3000045	+	Silent	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:3000045G>T	ENST00000520002.1	-	42	6741	c.6186C>A	c.(6184-6186)ctC>ctA	p.L2062L	CSMD1_ENST00000537824.1_Silent_p.L2061L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.L2062L|CSMD1_ENST00000400186.3_Silent_p.L2062L|CSMD1_ENST00000602557.1_Silent_p.L2062L|CSMD1_ENST00000542608.1_Silent_p.L2061L|CSMD1_ENST00000539096.1_Silent_p.L2061L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2062	CUB 12.			L -> F (in Ref. 5; AK126936).		integral to membrane		p.L2061L(1)|p.L1790L(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAAAGTGGATGAGGGTTTCAT	0.463000													7	34					5.18039e-06	6.38106e-06	1	1	0
TMEM225	338661	broad.mit.edu	37	11	123755300	123755300	+	Silent	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:123755300G>T	ENST00000375026.2	-	2	441	c.225C>A	c.(223-225)ggC>ggA	p.G75G		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	75						integral to membrane		p.G75G(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGAAGGAAAGGCCAAGGCTCG	0.388000													20	54					8.10497e-08	1.09533e-07	1	1	0
HINT1	3094	broad.mit.edu	37	5	130500892	130500892	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr5:130500892C>T	ENST00000304043.5	-	1	286	c.7G>A	c.(7-9)Gat>Aat	p.D3N	HINT1_ENST00000508488.1_Missense_Mutation_p.D3N|HINT1_ENST00000506207.1_Intron|HINT1_ENST00000506908.1_Missense_Mutation_p.D3N|HINT1_ENST00000513012.1_Missense_Mutation_p.D3N	NM_005340.6	NP_005331.1	P49773	HINT1_HUMAN	histidine triad nucleotide binding protein 1	3					signal transduction	cytoplasm|cytoskeleton|nucleus	hydrolase activity|protein kinase C binding	p.D3N(1)		endometrium(1)|large_intestine(1)|lung(3)	5		all_cancers(142;0.0452)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Adenosine monophosphate(DB00131)	GCAATCTCATCTGCCATCTCG	0.612000													6	21					0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104189769	104189769	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr9:104189769G>T	ENST00000374855.4	-	5	659	c.535C>A	c.(535-537)Cag>Aag	p.Q179K	ALDOB_ENST00000468981.2_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	179					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	p.Q179K(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				AGCACCTGCTGACAGATGCTG	0.517000													10	11					1.58986e-06	2.01071e-06	1	1	0
POTEE	445582	broad.mit.edu	37	2	132021678	132021678	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:132021678G>T	ENST00000356920.5	+	15	2744	c.2650G>T	c.(2650-2652)Gaa>Taa	p.E884*	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	884	Actin-like.						ATP binding	p.E884*(1)									GGCTGGGCGGGAACTGCCTGA	0.597000													27	65					7.11191e-15	1.15998e-14	1	1	0
CLYBL	171425	broad.mit.edu	37	13	100518493	100518493	+	Splice_Site	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr13:100518493G>T	ENST00000376355.3	+	5	563		c.e5-1		CLYBL_ENST00000376360.1_Splice_Site|CLYBL_ENST00000444838.2_Splice_Site|CLYBL_ENST00000376354.1_Splice_Site|CLYBL_ENST00000339105.4_Splice_Site	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like						cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	p.?(1)		NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCCATTTTCAGGTGCAACAAG	0.408000													25	41					5.49717e-05	6.54952e-05	1	1	0
PDE3B	5140	broad.mit.edu	37	11	14856585	14856585	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:14856585G>T	ENST00000282096.4	+	11	2617	c.2264G>T	c.(2263-2265)cGg>cTg	p.R755L	PDE3B_ENST00000455098.2_Missense_Mutation_p.R704L	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	755	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	p.R755L(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGACAACACGGCCAGTTCCT	0.398000													4	34					0.000602214	0.000679827	1	1	0
KLK3	354	broad.mit.edu	37	19	51361540	51361540	+	Silent	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:51361540C>A	ENST00000360617.3	+	3	462	c.462C>A	c.(460-462)gcC>gcA	p.A154A	KLK3_ENST00000593997.1_Silent_p.A154A|KLK3_ENST00000595952.1_Silent_p.A111A|KLK3_ENST00000326003.2_Silent_p.A154A|KLK3_ENST00000597483.1_Silent_p.A111A			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	154	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.A154A(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CCTGCTACGCCTCAGGCTGGG	0.652000													18	55					1.96292e-10	2.90144e-10	1	1	0
KIF19	124602	broad.mit.edu	37	17	72348372	72348372	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:72348372G>A	ENST00000389916.4	+	14	2011	c.1873G>A	c.(1873-1875)Gtc>Atc	p.V625I		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	625					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.V625I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CAACCTGGCCGTCCCGCAGCG	0.701000													5	22					0	0	1	0	0
PSMC4	5704	broad.mit.edu	37	19	40478082	40478082	+	Silent	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:40478082G>T	ENST00000157812.2	+	2	264	c.66G>T	c.(64-66)cgG>cgT	p.R22R	PSMC4_ENST00000455878.2_Silent_p.R22R	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	22					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	p.R22R(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CCGTGTCCCGGCCCCAGACCG	0.567000													21	72					1.50039e-11	2.25297e-11	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3038664	3038664	+	Missense_Mutation	SNP	A	A	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:3038664A>T	ENST00000520002.1	-	38	6251	c.5696T>A	c.(5695-5697)gTg>gAg	p.V1899E	CSMD1_ENST00000537824.1_Missense_Mutation_p.V1898E|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.V1899E|CSMD1_ENST00000400186.3_Missense_Mutation_p.V1899E|CSMD1_ENST00000602557.1_Missense_Mutation_p.V1899E|CSMD1_ENST00000542608.1_Missense_Mutation_p.V1898E|CSMD1_ENST00000539096.1_Missense_Mutation_p.V1898E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1899	CUB 11.					integral to membrane		p.V1627E(1)|p.V1898E(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGCAGCTGCCACACTAATGTC	0.403000													8	19					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44192964	44192964	+	Silent	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr7:44192964C>T	ENST00000403799.3	-	2	613	c.144G>A	c.(142-144)gaG>gaA	p.E48E	GCK_ENST00000395796.3_Silent_p.E47E|GCK_ENST00000437084.1_Silent_p.E48E|GCK_ENST00000345378.2_Silent_p.E49E	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	48					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	p.E48E(1)|p.E49E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CTTCATGGGTCTCCAGCCTCA	0.592000													41	137					0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102590739	102590739	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr9:102590739C>T	ENST00000330847.1	+	2	492	c.448C>T	c.(448-450)Cca>Tca	p.P150S	NR4A3_ENST00000338488.4_Missense_Mutation_p.P139S|NR4A3_ENST00000395097.2_Missense_Mutation_p.P139S			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	139					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	p.P150S(1)|p.P139S(1)	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CAAGCAGTCCCCACCGTCCAC	0.701000			T	EWSR1	extraskeletal myxoid chondrosarcoma								21	23					0	0	1	0	0
HMP19	51617	broad.mit.edu	37	5	173534486	173534486	+	Missense_Mutation	SNP	C	C	A	rs151227294	byFrequency	TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr5:173534486C>A	ENST00000303177.3	+	5	756	c.494C>A	c.(493-495)cCg>cAg	p.P165Q	NSG2_ENST00000521585.1_Intron|NSG2_ENST00000521959.1_3'UTR	NM_015980.4	NP_057064.1												p.P165Q(1)									GAGCCCAAGCCGCCCAAGACC	0.642000													3	8					1	1	1	1	0
ITIH6	347365	broad.mit.edu	37	X	54783793	54783793	+	Missense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chrX:54783793G>A	ENST00000218436.6	-	8	2743	c.2714C>T	c.(2713-2715)cCa>cTa	p.P905L		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	905	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.P905L(1)									GATTGTATTTGGGAATGTGCT	0.562000													19	14					0	0	1	0	0
SLC38A2	54407	broad.mit.edu	37	12	46756848	46756848	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:46756848C>A	ENST00000256689.5	-	13	1579	c.1135G>T	c.(1135-1137)Gtg>Ttg	p.V379L	SLC38A2_ENST00000551374.1_Missense_Mutation_p.V217L	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	379					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.V379L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		GCCATTAACACAGCCAGACGG	0.398000													21	62					4.96729e-08	6.75152e-08	1	1	0
GDA	9615	broad.mit.edu	37	9	74856165	74856165	+	Silent	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr9:74856165C>T	ENST00000358399.3	+	11	1179	c.1086C>T	c.(1084-1086)agC>agT	p.S362S	GDA_ENST00000238018.4_Silent_p.S362S|GDA_ENST00000376989.3_Silent_p.S301S|GDA_ENST00000545168.1_Silent_p.S288S|GDA_ENST00000376986.1_Silent_p.S284S	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	362					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	p.S362S(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ATGAGAAAAGCCTCACCCTCA	0.408000													14	27					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56081788	56081788	+	Silent	SNP	C	C	G	rs114735704	byFrequency	TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:56081788C>G	ENST00000257880.7	-	25	3501	c.3282G>C	c.(3280-3282)ctG>ctC	p.L1094L	ITGA7_ENST00000553804.1_Silent_p.L1054L|ITGA7_ENST00000394229.2_Silent_p.L1050L|ITGA7_ENST00000257879.6_Silent_p.L1050L|ITGA7_ENST00000394230.2_Silent_p.L1054L|ITGA7_ENST00000452168.2_Silent_p.L957L|ITGA7_ENST00000555728.1_Silent_p.L1094L|ITGA7_ENST00000347027.6_Silent_p.L1044L			Q13683	ITA7_HUMAN	integrin, alpha 7	1094					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	p.L1050L(1)|p.L1054L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTGCTAGCACCAGCAGCCCAG	0.597000													26	90					0	0	1	0	0
SPSB1	80176	broad.mit.edu	37	1	9416181	9416181	+	Silent	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:9416181G>A	ENST00000328089.6	+	2	572	c.231G>A	c.(229-231)cgG>cgA	p.R77R	SPSB1_ENST00000377399.2_Silent_p.R77R|SPSB1_ENST00000357898.3_Silent_p.R77R	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	77	B30.2/SPRY.				intracellular signal transduction	cytoplasm		p.R77R(1)		breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		TCTTTCACCGGCATCCGGTGG	0.582000													4	156					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48745281	48745281	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:48745281G>T	ENST00000285238.8	+	13	1773	c.1693G>T	c.(1693-1695)Gcc>Tcc	p.A565S	ABCC3_ENST00000427699.1_3'UTR	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	565	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	p.A565S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TGTGCTGGACGCCGAGAAGGC	0.537000													6	14					8.12818e-05	9.56376e-05	1	1	0
KCNJ11	3767	broad.mit.edu	37	11	17409336	17409336	+	Silent	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:17409336G>A	ENST00000339994.4	-	1	870	c.303C>T	c.(301-303)gcC>gcT	p.A101A	KCNJ11_ENST00000528731.1_Silent_p.A14A	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	14						integral to membrane	ATP-activated inward rectifier potassium channel activity	p.A101A(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		CCTCGCTGGGGGCCAGGTCAC	0.597000													3	26					0	0	1	0	0
ASL	435	broad.mit.edu	37	7	65548112	65548112	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr7:65548112T>A	ENST00000304874.9	+	6	499	c.397T>A	c.(397-399)Tcg>Acg	p.S133T	ASL_ENST00000395332.3_Missense_Mutation_p.S133T|ASL_ENST00000395331.3_Missense_Mutation_p.S133T|ASL_ENST00000380839.4_Missense_Mutation_p.S133T	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	133					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	p.S133T(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CTCCACGCTCTCGGGCCTCCT	0.622000													8	18					0	0	1	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56763635	56763635	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr3:56763635C>A	ENST00000413728.2	-	10	1805	c.1262G>T	c.(1261-1263)aGa>aTa	p.R421I	ARHGEF3_ENST00000497267.1_Missense_Mutation_p.R386I|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.R415I|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.R421I|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.R447I	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	415	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.R415I(2)|p.R447I(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GAAACTGACTCTGAAGAAGTT	0.408000													8	55					5.18039e-06	6.38106e-06	1	1	0
SRP54-AS1	100506157	broad.mit.edu	37	14	35409617	35409617	+	RNA	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr14:35409617G>C	ENST00000556355.1	-	0	257				RP11-85K15.2_ENST00000555015.1_RNA																							CATCTCCCTGGGCTTCCGCTT	0.458000													4	10					0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167754671	167754671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr3:167754671G>A	ENST00000470487.1	-	8	1485	c.796C>T	c.(796-798)Caa>Taa	p.Q266*	GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.Q238*	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	266					transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		p.Q266*(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTGTAACCTTGTGGAGAATGT	0.463000													43	75					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48775078	48775078	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:48775078C>A	ENST00000314191.2	-	44	5828	c.5772G>T	c.(5770-5772)gaG>gaT	p.E1924D	PRKDC_ENST00000338368.3_Missense_Mutation_p.E1924D|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1925					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.E1925D(1)|p.E1924D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTGCCATGTTCTCTGTAAATG	0.458000								Non-homologous end-joining					16	13					1.3612e-06	1.73544e-06	1	1	0
WDR63	126820	broad.mit.edu	37	1	85547000	85547000	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:85547000G>T	ENST00000294664.6	+	4	367	c.187G>T	c.(187-189)Gaa>Taa	p.E63*	WDR63_ENST00000370596.1_Nonsense_Mutation_p.E63*|WDR63_ENST00000326813.8_Nonsense_Mutation_p.E63*	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	63								p.E63*(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TGTCACAGATGAACAACCTTA	0.378000													19	32					2.39187e-15	3.96967e-15	1	1	0
CD177	57126	broad.mit.edu	37	19	43859930	43859930	+	RNA	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:43859930G>T	ENST00000378009.4	+	0	539				CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		p.R166M(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CTCAGGCTCAGGGGAGGTAAG	0.587000													9	30					1.58986e-06	2.01071e-06	1	1	0
HCRTR2	3062	broad.mit.edu	37	6	55145137	55145137	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:55145137G>T	ENST00000370862.3	+	6	1336	c.1000G>T	c.(1000-1002)Gcc>Tcc	p.A334S		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	334					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.A334S(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGGGATGTTTGCCCATACTGA	0.368000													33	115					1.45844e-13	2.28424e-13	1	1	0
ZFR	51663	broad.mit.edu	37	5	32415138	32415138	+	Silent	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr5:32415138C>A	ENST00000265069.8	-	5	822	c.720G>T	c.(718-720)gcG>gcT	p.A240A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	240	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	p.A240A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CCACAGTAGCCGCAGCTGCTA	0.458000													16	27					3.41278e-10	5.01319e-10	1	1	0
EDAR	10913	broad.mit.edu	37	2	109513673	109513673	+	Missense_Mutation	SNP	G	G	T	rs150887314	byFrequency	TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:109513673G>T	ENST00000409271.1	-	12	1576	c.1133C>A	c.(1132-1134)aCg>aAg	p.T378K	EDAR_ENST00000258443.2_Missense_Mutation_p.T346K|EDAR_ENST00000376651.1_Missense_Mutation_p.T378K			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	346	Death.				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	p.T346K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TGGCAGCTCCGTGGGGCTAAG	0.463000													28	28					2.14196e-07	2.83001e-07	1	1	0
GABRB3	2562	broad.mit.edu	37	15	26793272	26793272	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr15:26793272G>T	ENST00000541819.2	-	10	1360	c.1258C>A	c.(1258-1260)Cat>Aat	p.H420N	GABRB3_ENST00000299267.4_Missense_Mutation_p.H364N|GABRB3_ENST00000545868.1_Missense_Mutation_p.H279N|GABRB3_ENST00000400188.3_Missense_Mutation_p.H293N|GABRB3_ENST00000311550.5_Missense_Mutation_p.H364N			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	364					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.H364N(2)|p.H420N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATATTTCCATGAGCATCCACC	0.448000													33	39					5.97227e-30	1.13449e-29	1	1	0
KIF21B	23046	broad.mit.edu	37	1	200977969	200977969	+	Silent	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:200977969G>T	ENST00000332129.2	-	3	691	c.375C>A	c.(373-375)gcC>gcA	p.A125A	KIF21B_ENST00000422435.2_Silent_p.A125A|KIF21B_ENST00000461742.2_Silent_p.A125A|KIF21B_ENST00000360529.5_Silent_p.A125A	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	125	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A125A(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCTTGCGCTCGGCAATGCCCC	0.632000													17	59					4.7546e-09	6.71322e-09	1	1	0
NPNT	255743	broad.mit.edu	37	4	106858268	106858268	+	Missense_Mutation	SNP	C	C	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:106858268C>G	ENST00000379987.2	+	4	584	c.368C>G	c.(367-369)cCg>cGg	p.P123R	NPNT_ENST00000305572.8_Missense_Mutation_p.P123R|NPNT_ENST00000453617.2_Missense_Mutation_p.P140R|NPNT_ENST00000514622.1_Missense_Mutation_p.P123R|NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000506666.1_Missense_Mutation_p.P153R|NPNT_ENST00000427316.2_Missense_Mutation_p.P153R	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	123	EGF-like 2; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding	p.P123R(1)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		ATGCTCATGCCGGATGGTTCC	0.468000													16	88					0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5246887	5246887	+	Missense_Mutation	SNP	C	C	A	rs63750860		TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:5246887C>A	ENST00000335295.3	-	3	560	c.385G>T	c.(385-387)Gct>Tct	p.A129S		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	129			A -> D (in J-Guantanamo; unstable).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity	p.A129S(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	TGATAGGCAGCCTGCACTGGT	0.507000									Sickle Cell Trait				21	36					3.8784e-16	6.52842e-16	1	1	0
CYTH3	9265	broad.mit.edu	37	7	6210909	6210909	+	Silent	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr7:6210909C>T	ENST00000350796.3	-	7	622	c.486G>A	c.(484-486)gcG>gcA	p.A162A	CYTH3_ENST00000488964.1_5'UTR|CYTH3_ENST00000396741.2_Silent_p.A77A	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	162	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.A162A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						CAATCTTCTGCGCCTCCCCGG	0.612000													16	75					0	0	1	0	0
PHYH	5264	broad.mit.edu	37	10	13325783	13325783	+	Silent	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr10:13325783C>A	ENST00000396920.3	-	7	1088	c.684G>T	c.(682-684)cgG>cgT	p.R228R	PHYH_ENST00000396913.2_Silent_p.R145R|PHYH_ENST00000263038.4_Silent_p.R245R			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	245					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	p.R245R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	CCAGGTGCACCCGGGCCTTGT	0.502000													48	147					8.94452e-30	1.6923e-29	1	1	0
OR5J2	282775	broad.mit.edu	37	11	55944979	55944979	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:55944979G>C	ENST00000312298.1	+	1	886	c.886G>C	c.(886-888)Gac>Cac	p.D296H		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D296H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GAGAAACAAGGACGTAAAGGA	0.383000													17	44					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551651	99551651	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chrX:99551651T>A	ENST00000373034.4	-	6	4746	c.3071A>T	c.(3070-3072)gAc>gTc	p.D1024V	PCDH19_ENST00000255531.7_Missense_Mutation_p.D977V|PCDH19_ENST00000420881.2_Missense_Mutation_p.D976V	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1024					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D477V(1)|p.D1024V(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGCCGGGTGGTCGCTGACATC	0.567000													16	11					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20864835	20864835	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr14:20864835C>A	ENST00000262715.5	-	10	1644	c.1604G>T	c.(1603-1605)cGg>cTg	p.R535L	TEP1_ENST00000556935.1_Missense_Mutation_p.R427L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	535	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.R535L(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GATTCCAACCCGCAGCAGGTT	0.537000													6	16					0.00198382	0.00216708	1	1	0
CPN1	1369	broad.mit.edu	37	10	101841283	101841283	+	Missense_Mutation	SNP	T	T	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr10:101841283T>A	ENST00000370418.3	-	1	351	c.100A>T	c.(100-102)Acg>Tcg	p.T34S		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	34	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.T34S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TTGTACAGCGTCCGCACAAGA	0.582000													4	44					0	0	1	0	0
RGS18	64407	broad.mit.edu	37	1	192150556	192150556	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:192150556G>T	ENST00000367460.3	+	4	599	c.418G>T	c.(418-420)Gag>Tag	p.E140*		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	140	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.E140*(1)		kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCAATATATGAGAAATTTAT	0.279000													14	45					3.45872e-05	4.1417e-05	1	1	0
AKAP6	9472	broad.mit.edu	37	14	32902804	32902804	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr14:32902804G>T	ENST00000280979.4	+	2	275	c.105G>T	c.(103-105)gaG>gaT	p.E35D	AKAP6_ENST00000557272.1_Missense_Mutation_p.E35D|AKAP6_ENST00000557354.1_Missense_Mutation_p.E35D|AKAP6_ENST00000554449.1_3'UTR	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	35					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.E35D(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CCACTGTGGAGCAGGGTGAGG	0.552000													43	28					6.2361e-21	1.13887e-20	1	1	0
EPS15L1	58513	broad.mit.edu	37	19	16528760	16528760	+	Splice_Site	SNP	G	G	A	rs140677972		TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr19:16528760G>A	ENST00000602009.1	-	5	1539	c.645_splice	c.e5+1	p.P215_splice	EPS15L1_ENST00000248070.6_Splice_Site_p.P369_splice|EPS15L1_ENST00000597937.1_Splice_Site_p.P369_splice|EPS15L1_ENST00000594975.1_Splice_Site_p.P369_splice|EPS15L1_ENST00000535753.2_Splice_Site_p.P369_splice|EPS15L1_ENST00000455140.2_Splice_Site_p.P369_splice			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	369	EH 2.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	p.P369L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						ACCACTCACCGGGCCGGGCGT	0.627000											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	32					0	0	1	0	0
MRPS36	92259	broad.mit.edu	37	5	68522176	68522176	+	Silent	SNP	A	A	G			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr5:68522176A>G	ENST00000256441.4	+	2	124	c.54A>G	c.(52-54)ccA>ccG	p.P18P	MRPS36_ENST00000512880.1_5'UTR|MRPS36_ENST00000507022.1_Intron|MRPS36_ENST00000602380.1_5'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	18					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	p.P18P(1)		NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		TAGTCAAACCACACACTCCAT	0.284000													6	36					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091240	143091240	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:143091240C>A	ENST00000367603.2	-	5	5378	c.4636G>T	c.(4636-4638)Ggt>Tgt	p.G1546C	HIVEP2_ENST00000012134.2_Missense_Mutation_p.G1546C|HIVEP2_ENST00000367604.1_Missense_Mutation_p.G1546C	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1546	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G1546C(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCCCGGGAACCGGAAAGCATC	0.537000													26	32					1.64293e-13	2.54789e-13	1	1	0
RPGRIP1	57096	broad.mit.edu	37	14	21793123	21793123	+	Silent	SNP	A	A	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr14:21793123A>T	ENST00000206660.6	+	14	2109	c.2109A>T	c.(2107-2109)atA>atT	p.I703I	RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000400017.2_Silent_p.I703I|RPGRIP1_ENST00000557771.1_Silent_p.I665I|RPGRIP1_ENST00000307974.4_Silent_p.I62I			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	703					response to stimulus|visual perception	cilium		p.I703I(1)|p.I319I(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGCTTGACATACACCAGGCCA	0.532000													49	67					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47276568	47276568	+	Silent	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr20:47276568G>A	ENST00000396220.1	-	16	1792	c.1770C>T	c.(1768-1770)tcC>tcT	p.S590S	PREX1_ENST00000371941.3_Silent_p.S590S			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	590	DEP 2.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.S590S(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGAAGTACTGGGACTCATCCC	0.522000													28	56					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021677	132021677	+	Silent	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr2:132021677G>T	ENST00000356920.5	+	15	2743	c.2649G>T	c.(2647-2649)cgG>cgT	p.R883R	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	883	Actin-like.						ATP binding	p.E884*(1)									TGGCTGGGCGGGAACTGCCTG	0.597000													26	61					3.90053e-15	6.42839e-15	1	1	0
KRT6A	3853	broad.mit.edu	37	12	52884697	52884697	+	Missense_Mutation	SNP	G	G	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:52884697G>C	ENST00000330722.6	-	4	925	c.857C>G	c.(856-858)gCc>gGc	p.A286G		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	286	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	p.A286G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GTCTGCCTTGGCTTGCAGTTC	0.493000													17	42					0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78477406	78477406	+	Missense_Mutation	SNP	G	G	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr13:78477406G>T	ENST00000377211.4	-	4	1108	c.956C>A	c.(955-957)tCt>tAt	p.S319Y	EDNRB_ENST00000446573.1_Missense_Mutation_p.S229Y|EDNRB_ENST00000334286.5_Missense_Mutation_p.S229Y	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	229			R -> W (in HSCR2; sporadic).		activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	p.S229Y(1)|p.S319Y(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CAGAACCACAGAGACCACCCA	0.413000													39	74					3.61848e-18	6.3984e-18	1	1	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011577	46011577	+	Silent	SNP	G	G	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr21:46011577G>A	ENST00000400368.1	-	1	809	c.789C>T	c.(787-789)tcC>tcT	p.S263S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	263	29 X 5 AA repeats of C-C-X(3).					keratin filament		p.S263S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGAGGAGGTGCAGC	0.647000													3	103					0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111495394	111495394	+	Missense_Mutation	SNP	C	C	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:111495394C>T	ENST00000369763.4	-	2	502	c.112G>A	c.(112-114)Gat>Aat	p.D38N	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_5'UTR	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	p.D38N(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TTTTTTCCATCCGAGCCAATC	0.343000													17	19					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6131129	6131129	+	Missense_Mutation	SNP	C	C	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr12:6131129C>A	ENST00000261405.5	-	27	3865	c.3611G>T	c.(3610-3612)cGg>cTg	p.R1204L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1204					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.R1204L(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGCAAAACGCCGGCCAGCCAC	0.493000													29	107					6.07407e-21	1.11358e-20	1	1	0
LRRIQ3	127255	broad.mit.edu	37	1	74649254	74649255	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:74649254_74649255insA	ENST00000354431.4	-	2	305_306	c.114_115insT	c.(112-117)ctatttfs	p.F39fs	LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.F39fs|LRRIQ3_ENST00000370911.3_Frame_Shift_Ins_p.F39fs|LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.F39fs	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	39										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						gactttaaatgaaggccattga	0.332													19	32	---	---	---	---					
ATP1A2	477	broad.mit.edu	37	1	160093111	160093111	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr1:160093111delG	ENST00000361216.3	+	4	375	c.286delG	c.(286-288)ggfs	p.G97fs	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Frame_Shift_Del_p.G97fs	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	97					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCAGCTTTTCGGGGGGTTCTC	0.602													72	170	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9106117	9106117	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr3:9106117delC	ENST00000383836.3	-	5	1062	c.635delG	c.(634-636)ccfs	p.R212fs	SRGAP3_ENST00000360413.3_Frame_Shift_Del_p.R212fs|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	212					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CACAGAGCTGCGGCGCTGGGG	0.597			T	RAF1	pilocytic astrocytoma								18	76	---	---	---	---					
DCBLD2	131566	broad.mit.edu	37	3	98530098	98530098	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr3:98530098delC	ENST00000326840.6	-	12	1878	c.1516delG	c.(1516-1518)aafs	p.E506fs	DCBLD2_ENST00000326857.9_Frame_Shift_Del_p.E506fs	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	506					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GTTGTTTGTTCTGTCTGTGCA	0.383													71	114	---	---	---	---					
TACR3	6870	broad.mit.edu	37	4	104577495	104577496	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr4:104577495_104577496insT	ENST00000304883.2	-	3	883_884	c.743_744insA	c.(742-744)catfs	p.H248fs		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	248						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGACGATAATATGGTAACTATG	0.366													9	50	---	---	---	---					
CYB5R4	51167	broad.mit.edu	37	6	84574030	84574031	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr6:84574030_84574031insT	ENST00000369681.4	+	2	352_353	c.212_213insT	c.(211-213)ttgfs	p.L71fs	CYB5R4_ENST00000369679.4_Frame_Shift_Ins_p.L37fs	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	71	Cytochrome b5 heme-binding.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AAAGATGATTGTTGGATATGCA	0.337													25	29	---	---	---	---					
C8orf74	203076	broad.mit.edu	37	8	10555161	10555161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:10555161delC	ENST00000304519.5	+	3	323	c.294delC	c.(292-294)tafs	p.Y98fs	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	98										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		TTAGAGATTACCGGGGCCATT	0.572													49	102	---	---	---	---					
DCAF4L2	138009	broad.mit.edu	37	8	88885456	88885456	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr8:88885456delG	ENST00000319675.3	-	1	840	c.744delC	c.(742-744)atfs	p.I248fs		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	248										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CAATGCCAAAGATCTCCCCAG	0.517													18	137	---	---	---	---					
ROBO3	64221	broad.mit.edu	37	11	124740590	124740590	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr11:124740590delC	ENST00000397801.1	+	6	1191	c.999delC	c.(997-999)ggfs	p.G333fs	ROBO3_ENST00000538940.1_Frame_Shift_Del_p.G311fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	333	Ig-like C2-type 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ACAGTGTGGGCCGCGCTGAAG	0.587													8	13	---	---	---	---					
GPC6	10082	broad.mit.edu	37	13	95055375	95055376	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr13:95055375_95055376delGA	ENST00000377047.4	+	9	2187_2188	c.1572_1573delGA	c.(1570-1575)cggafs	p.RR524fs		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	524						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				ATCCCGACCGGAGAGAGGTGGA	0.594													18	41	---	---	---	---					
ZZEF1	23140	broad.mit.edu	37	17	3937517	3937517	+	Frame_Shift_Del	DEL	C	C	-	rs141392657		TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:3937517delC	ENST00000381638.2	-	40	6500	c.6376delG	c.(6376-6378)cafs	p.A2126fs		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2126							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGGTGGCCTGCGTTTGAGATG	0.527													34	45	---	---	---	---					
SDK2	54549	broad.mit.edu	37	17	71346823	71346824	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr17:71346823_71346824insC	ENST00000392650.3	-	42	5864_5865	c.5864_5865insG	c.(5863-5865)gcafs	p.A1955fs	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Frame_Shift_Ins_p.A1936fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1955					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCTTGCTCTGGCCCCGGATGAT	0.535													13	47	---	---	---	---					
ZNF236	7776	broad.mit.edu	37	18	74593429	74593430	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr18:74593429_74593430insA	ENST00000253159.8	+	9	1570_1571	c.1372_1373insA	c.(1372-1374)aaafs	p.K458fs	ZNF236_ENST00000320610.9_Frame_Shift_Ins_p.K460fs	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	458					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGATAAAAAAGAAAAAAAAATG	0.381													25	127	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	RNA	DEL	A	A	-			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363													3	4	---	---	---	---					
SLC9A8	23315	broad.mit.edu	37	20	48431651	48431651	+	Frame_Shift_Del	DEL	G	G	-			TCGA-64-5779-01A-01D-1625-08	TCGA-64-5779-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5734711b-52cd-46e6-9c2a-92c0612fee33	6d2c91d6-26aa-4c25-9bb1-c5260e79af7c	g.chr20:48431651delG	ENST00000417961.1	+	2	343	c.133delG	c.(133-135)tgfs	p.V45fs	SLC9A8_ENST00000361573.2_Frame_Shift_Del_p.V45fs|SLC9A8_ENST00000539601.1_5'UTR|SLC9A8_ENST00000541138.1_5'UTR	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	45						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CATCCTCCCCGTGCAGACAGG	0.577													37	84	---	---	---	---					
