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
MIF4GD	57409	broad.mit.edu	37	17	73264170	73264170	+	Silent	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:73264170G>T	ENST00000577542.1	-	4	571	c.309C>A	c.(307-309)atC>atA	p.I103I	MIF4GD_ENST00000578305.1_Intron|MIF4GD_ENST00000245551.5_Silent_p.I96I|MIF4GD_ENST00000579119.1_Silent_p.I62I|MIF4GD_ENST00000325102.8_Silent_p.I62I|MIF4GD_ENST00000580571.1_Silent_p.I62I|MIF4GD_ENST00000579297.1_Silent_p.I103I			A9UHW6	MI4GD_HUMAN	MIF4G domain containing	62	MIF4G.				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CAACCTGAATGATGGCGTAGC	0.562000													5	136					0.184627	0.188247	0.184627	1	0
OR5R1	219479	broad.mit.edu	37	11	56185534	56185534	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:56185534T>A	ENST00000312253.1	-	1	174	c.175A>T	c.(175-177)Atg>Ttg	p.M59L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AAATAGTACATAGGTGTGTGG	0.438000													10	73					0	0	0.387290	0	0
CACHD1	57685	broad.mit.edu	37	1	65099811	65099811	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:65099811G>A	ENST00000371073.2	+	7	874	c.874G>A	c.(874-876)Gag>Aag	p.E292K	CACHD1_ENST00000290039.5_Missense_Mutation_p.E241K|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	292	VWFA.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGCCACCAGTGAGACAAAAAG	0.473000													7	70					0	0	0.248553	0	0
LSR	51599	broad.mit.edu	37	19	35758624	35758624	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:35758624G>A	ENST00000602122.1	+	8	2328	c.1841G>A	c.(1840-1842)cGc>cAc	p.R614H	LSR_ENST00000354900.3_Missense_Mutation_p.R615H|LSR_ENST00000361790.3_Missense_Mutation_p.R634H|LSR_ENST00000347609.4_Missense_Mutation_p.R576H|LSR_ENST00000427250.1_Missense_Mutation_p.R478H|LSR_ENST00000360798.3_Missense_Mutation_p.R566H			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	634					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCCCGAGAGCGCAGGCTCAAG	0.692000													4	151					0	0	0.150653	0	0
ISLR2	57611	broad.mit.edu	37	15	74427051	74427051	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr15:74427051C>T	ENST00000361742.3	+	4	2725	c.1956C>T	c.(1954-1956)ctC>ctT	p.L652L	ISLR2_ENST00000565159.1_Silent_p.L652L|ISLR2_ENST00000435464.1_Silent_p.L652L|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000419208.1_Silent_p.L652L|ISLR2_ENST00000453268.2_Silent_p.L652L|ISLR2_ENST00000445793.1_Silent_p.L652L|ISLR2_ENST00000565540.1_Silent_p.L652L	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	652					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CTTCGTACCTCGAGTCCGAGA	0.677000											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	101					0	0	0.278610	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99339876	99339876	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr4:99339876G>T	ENST00000408927.3	+	10	1221	c.1108G>T	c.(1108-1110)Gta>Tta	p.V370L	RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.V321L|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.V279L|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.V371L|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.V371L|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.V322L	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	370							binding|GTPase activator activity	p.V371L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GGACAGACATGTAGAAGATGG	0.378000			T	NUP98	T-ALL								3	77					0.00024832	0.000273283	0.150653	1	0
EMILIN1	11117	broad.mit.edu	37	2	27306220	27306220	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:27306220G>A	ENST00000380320.4	+	4	2280	c.1781G>A	c.(1780-1782)cGc>cAc	p.R594H		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	594					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAACTAGGCCGCCTTCGGGAT	0.697000													19	97					0	0	0.557998	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42144745	42144745	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr20:42144745G>C	ENST00000444063.1	+	4	652	c.520G>C	c.(520-522)Gaa>Caa	p.E174Q	L3MBTL1_ENST00000373134.1_Missense_Mutation_p.E174Q|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.E242Q|L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.E242Q|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.E174Q			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	174					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GAAGCAAGAAGAAGGAAAGGA	0.552000													5	73					0	0	0.217242	0	0
SUPT5H	6829	broad.mit.edu	37	19	39964120	39964120	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:39964120G>C	ENST00000599117.1	+	26	2818	c.2451G>C	c.(2449-2451)caG>caC	p.Q817H	SUPT5H_ENST00000598725.1_Missense_Mutation_p.Q817H|SUPT5H_ENST00000359191.6_Missense_Mutation_p.Q813H|SUPT5H_ENST00000432763.2_Missense_Mutation_p.Q817H|SUPT5H_ENST00000402194.2_Missense_Mutation_p.Q813H			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	817	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTCCTGCCCAGAGTGGGGCCT	0.632000													13	107					0	0	0.411799	0	0
MKKS	8195	broad.mit.edu	37	20	10393844	10393844	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr20:10393844G>C	ENST00000347364.2	-	3	1081	c.319C>G	c.(319-321)Cag>Gag	p.Q107E		NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	107					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						CCTAATCTCTGAACATTTTCA	0.393000													10	90					0	0	0.361761	0	0
AGA	175	broad.mit.edu	37	4	178358644	178358644	+	Silent	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr4:178358644G>A	ENST00000264595.2	-	5	664	c.537C>T	c.(535-537)tgC>tgT	p.C179C	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	179					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TGTAGGGTCCGCAGTATTTTG	0.338000													4	88					0	0	0.184627	0	0
KCNT1	57582	broad.mit.edu	37	9	138667243	138667243	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr9:138667243C>A	ENST00000298480.5	+	20	2405	c.2331C>A	c.(2329-2331)tgC>tgA	p.C777*	KCNT1_ENST00000490355.2_Nonsense_Mutation_p.C756*|KCNT1_ENST00000263604.3_Nonsense_Mutation_p.C758*|KCNT1_ENST00000488444.2_Nonsense_Mutation_p.C758*|KCNT1_ENST00000487664.1_Nonsense_Mutation_p.C732*|KCNT1_ENST00000486577.2_Nonsense_Mutation_p.C736*|KCNT1_ENST00000371757.2_Nonsense_Mutation_p.C777*|KCNT1_ENST00000491806.2_Nonsense_Mutation_p.C744*			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	777						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCCCCTTCTGCTGCCTGCGGC	0.652000													4	100					0.150653	0.154364	0.150653	1	0
EBF1	1879	broad.mit.edu	37	5	158223429	158223429	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr5:158223429G>A	ENST00000313708.6	-	9	1115	c.833C>T	c.(832-834)gCg>gTg	p.A278V	EBF1_ENST00000380654.4_Missense_Mutation_p.A247V|EBF1_ENST00000517373.1_Missense_Mutation_p.A270V|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	278	IPT/TIG.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATCACAGTCGCACCTCCCGT	0.463000			T	HMGA2	lipoma								8	89					0	0	0.307466	0	0
HOXB3	3213	broad.mit.edu	37	17	46627999	46627999	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:46627999C>T	ENST00000470495.1	-	2	2440	c.993G>A	c.(991-993)ccG>ccA	p.P331P	HOXB3_ENST00000498678.1_Silent_p.P331P|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000311626.4_Silent_p.P331P|HOXB3_ENST00000485909.2_Silent_p.P199P|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000490677.1_Silent_p.P197P|HOXB3_ENST00000476342.1_Silent_p.P331P|HOXB3_ENST00000472863.1_Silent_p.P258P|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Silent_p.P199P|HOXB3_ENST00000489475.1_Silent_p.P258P			P14651	HXB3_HUMAN	homeobox B3	331					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GGAGGACGTGCGGCTCATACT	0.716000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	70					0	0	0.115264	0	0
DST	667	broad.mit.edu	37	6	56505121	56505121	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:56505121G>T	ENST00000370754.5	-	17	2210	c.2211C>A	c.(2209-2211)ttC>ttA	p.F737L	DST_ENST00000244364.6_Missense_Mutation_p.F233L|DST_ENST00000361203.3_Missense_Mutation_p.F559L|DST_ENST00000370788.2_Missense_Mutation_p.F559L|DST_ENST00000312431.6_Missense_Mutation_p.F559L|DST_ENST00000370765.6_Missense_Mutation_p.F233L|DST_ENST00000446842.2_Missense_Mutation_p.F233L|DST_ENST00000421834.2_Missense_Mutation_p.F559L|DST_ENST00000518935.1_Missense_Mutation_p.F233L|DST_ENST00000370769.4_Missense_Mutation_p.F559L			Q03001	DYST_HUMAN	dystonin	559					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)			ATCCTGATGGGAAACCAGGTG	0.443000													11	141					2.61681e-11	3.14623e-11	0.457914	1	0
PDE4B	5142	broad.mit.edu	37	1	66833700	66833700	+	Silent	SNP	T	T	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:66833700T>C	ENST00000423207.2	+	13	2054	c.1569T>C	c.(1567-1569)gtT>gtC	p.V523V	PDE4B_ENST00000371049.3_Silent_p.V538V|PDE4B_ENST00000480109.2_Silent_p.V305V|PDE4B_ENST00000371045.5_Silent_p.V366V|PDE4B_ENST00000329654.4_Silent_p.V538V	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	538					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CGAAGAAAGTTACAAGTTCAG	0.388000													12	90					0	0	0.435327	0	0
CNGA3	1261	broad.mit.edu	37	2	99012566	99012566	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:99012566C>T	ENST00000393504.1	+	8	1350	c.933C>T	c.(931-933)ctC>ctT	p.L311L	CNGA3_ENST00000436404.2_Silent_p.L293L|CNGA3_ENST00000409937.1_Silent_p.L315L|CNGA3_ENST00000272602.2_Silent_p.L311L	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	311					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGTACATTCTCATCATCATCC	0.458000													17	175					0	0	0.539581	0	0
CTNND1	1500	broad.mit.edu	37	11	57569359	57569359	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:57569359G>T	ENST00000524630.1	+	7	1624	c.1111G>T	c.(1111-1113)Gtg>Ttg	p.V371L	CTNND1_ENST00000533667.1_Missense_Mutation_p.V48L|CTNND1_ENST00000530094.1_Missense_Mutation_p.V270L|CTNND1_ENST00000532787.1_Missense_Mutation_p.V270L|CTNND1_ENST00000426142.2_Missense_Mutation_p.V270L|CTNND1_ENST00000529526.1_Missense_Mutation_p.V317L|CTNND1_ENST00000526772.1_Missense_Mutation_p.V48L|CTNND1_ENST00000399050.4_Missense_Mutation_p.V371L|CTNND1_ENST00000528621.1_Missense_Mutation_p.V317L|CTNND1_ENST00000528232.1_Missense_Mutation_p.V270L|CTNND1_ENST00000531014.1_Missense_Mutation_p.V48L|CTNND1_ENST00000527467.1_Missense_Mutation_p.V48L|CTNND1_ENST00000399039.4_Missense_Mutation_p.V371L|CTNND1_ENST00000532463.1_Missense_Mutation_p.V270L|CTNND1_ENST00000532844.1_Missense_Mutation_p.V317L|CTNND1_ENST00000532649.1_Missense_Mutation_p.V317L|CTNND1_ENST00000529986.1_Missense_Mutation_p.V270L|CTNND1_ENST00000415361.2_Missense_Mutation_p.V270L|CTNND1_ENST00000428599.2_Missense_Mutation_p.V371L|CTNND1_ENST00000534579.1_Missense_Mutation_p.V317L|CTNND1_ENST00000526938.1_Missense_Mutation_p.V371L|CTNND1_ENST00000532245.1_Missense_Mutation_p.V270L|CTNND1_ENST00000358694.6_Missense_Mutation_p.V371L|CTNND1_ENST00000525902.1_Missense_Mutation_p.V48L|CTNND1_ENST00000361391.6_Missense_Mutation_p.V371L|CTNND1_ENST00000530748.1_Missense_Mutation_p.V317L|CTNND1_ENST00000361332.4_Missense_Mutation_p.V371L|CTNND1_ENST00000529919.1_Missense_Mutation_p.V371L|CTNND1_ENST00000360682.6_Missense_Mutation_p.V371L|CTNND1_ENST00000526357.1_Missense_Mutation_p.V317L|CTNND1_ENST00000529873.1_Missense_Mutation_p.V317L|CTNND1_ENST00000361796.4_Missense_Mutation_p.V371L			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	371					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GCTGCCAGAGGTGATCGCCAT	0.537000													6	104					0.000157383	0.000174126	0.278610	1	0
PITPNC1	26207	broad.mit.edu	37	17	65688860	65688860	+	Silent	SNP	C	C	T	rs146560406	by1000genomes	TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:65688860C>T	ENST00000335257.6	+	9	1202	c.855C>T	c.(853-855)ccC>ccT	p.P285P	PITPNC1_ENST00000581322.1_Silent_p.P285P|PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000299954.9_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	285					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			CAGACGCACCCGAATTTCTGT	0.557000													7	170					0	0	0.248553	0	0
SSRP1	6749	broad.mit.edu	37	11	57094220	57094220	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:57094220G>A	ENST00000278412.2	-	16	2281	c.2015C>T	c.(2014-2016)tCt>tTt	p.S672F	RP11-872D17.4_ENST00000534162.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	672	Ser-rich.				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CTCTCCCGAAGAGCTCTCATC	0.552000													6	146					0	0	0.248553	0	0
KCNA3	3738	broad.mit.edu	37	1	111216803	111216803	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:111216803G>A	ENST00000369769.2	-	1	852	c.629C>T	c.(628-630)cCc>cTc	p.P210L		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	210						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGGGGCAAGGGCCGCTCCTC	0.677000													4	55					0	0	0.361761	0	0
C9orf47	286223	broad.mit.edu	37	9	91605992	91605992	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr9:91605992C>G	ENST00000375851.2	+	1	215	c.82C>G	c.(82-84)Cga>Gga	p.R28G	C9orf47_ENST00000334490.5_Missense_Mutation_p.R28G|C9orf47_ENST00000375850.3_Missense_Mutation_p.R28G	NM_001001938.3|NM_001142413.1	NP_001001938.1|NP_001135885.1	Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	28						extracellular region				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						GCTGTCAGGGCGACAGGCGCC	0.567000													7	50					0	0	0.248553	0	0
HYOU1	10525	broad.mit.edu	37	11	118921809	118921809	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:118921809C>T	ENST00000404233.3	-	14	1727	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	HYOU1_ENST00000529972.1_Missense_Mutation_p.E535K|HYOU1_ENST00000543287.1_Missense_Mutation_p.E448K|HYOU1_ENST00000525859.1_Missense_Mutation_p.E535K	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	535						endoplasmic reticulum lumen	ATP binding|protein binding	p.E535K(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CCCTTGGACTCGTAGTCAGGA	0.527000													6	81					0	0	0.248553	0	0
DST	667	broad.mit.edu	37	6	56504792	56504792	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:56504792G>T	ENST00000370754.5	-	18	2454	c.2455C>A	c.(2455-2457)Cat>Aat	p.H819N	DST_ENST00000244364.6_Missense_Mutation_p.H315N|DST_ENST00000361203.3_Missense_Mutation_p.H641N|DST_ENST00000370788.2_Missense_Mutation_p.H641N|DST_ENST00000312431.6_Missense_Mutation_p.H641N|DST_ENST00000370765.6_Missense_Mutation_p.H315N|DST_ENST00000446842.2_Missense_Mutation_p.H315N|DST_ENST00000421834.2_Missense_Mutation_p.H641N|DST_ENST00000518935.1_Missense_Mutation_p.H315N|DST_ENST00000370769.4_Missense_Mutation_p.H641N			Q03001	DYST_HUMAN	dystonin	641					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)			ACATTTTTATGATTTTCTAAA	0.308000													7	116					0.000157383	0.000174126	0.278610	1	0
SLC9C1	285335	broad.mit.edu	37	3	111981806	111981806	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:111981806C>T	ENST00000305815.5	-	10	1414	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N	SLC9C1_ENST00000487372.1_Missense_Mutation_p.D340N	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	388					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										AAATAAAGATCAGAGTAGGCA	0.333000													7	68					0	0	0.278610	0	0
OBSCN	84033	broad.mit.edu	37	1	228487214	228487214	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:228487214A>C	ENST00000570156.2	+	50	13539	c.13465A>C	c.(13465-13467)Act>Cct	p.T4489P	OBSCN_ENST00000366707.4_Missense_Mutation_p.T1179P|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3532	Ig-like 46.			H -> Q (in Ref. 1; CAC44768).	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCTACACTCACTGTCAGGGG	0.547000													9	142					0	0	0.307466	0	0
EPS8	2059	broad.mit.edu	37	12	15776179	15776179	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:15776179G>T	ENST00000281172.5	-	20	2704	c.2268C>A	c.(2266-2268)ttC>ttA	p.F756L	EPS8_ENST00000543612.1_Missense_Mutation_p.F756L|EPS8_ENST00000543523.1_Missense_Mutation_p.F756L|EPS8_ENST00000542903.1_Missense_Mutation_p.F496L|EPS8_ENST00000540613.1_Missense_Mutation_p.F496L	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	756					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TATTGAGAGAGAAAAGTTGTG	0.378000													19	120					1.67942e-08	1.96246e-08	0.539581	1	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	79					0	0	0.150653	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144952292	144952292	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:144952292T>C	ENST00000369359.4	-	7	876	c.838A>G	c.(838-840)Aaa>Gaa	p.K280E	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.K143E|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K143E|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.K143E|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.K209E|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.K143E|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K280E|PDE4DIP_ENST00000369347.4_Missense_Mutation_p.K143E|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.K280E			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	143					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCCTTCAGTTTCTCTGAGAGC	0.532000			T	PDGFRB	MPD								3	122					0	0	0.184627	0	0
MYH9	4627	broad.mit.edu	37	22	36712581	36712581	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr22:36712581G>A	ENST00000216181.5	-	12	1591	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	454	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCGAAGCCGGCAATGTCCAG	0.562000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				4	236					0	0	0.150653	0	0
ZNF660	285349	broad.mit.edu	37	3	44635868	44635868	+	Silent	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:44635868G>A	ENST00000322734.2	+	3	516	c.183G>A	c.(181-183)caG>caA	p.Q61Q	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CCTTTAGTCAGAGTGCAAACC	0.438000													6	63					0	0	0.217242	0	0
PTRH2	51651	broad.mit.edu	37	17	57775074	57775074	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:57775074G>A	ENST00000470557.2	-	1	3712	c.266C>T	c.(265-267)gCt>gTt	p.A89V	PTRH2_ENST00000409433.2_Missense_Mutation_p.A90V|PTRH2_ENST00000393038.2_Missense_Mutation_p.A89V|PTRH2_ENST00000537860.1_Missense_Mutation_p.A89V			Q9Y3E5	PTH2_HUMAN	peptidyl-tRNA hydrolase 2	89					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGAAACAGCAGCATGAGAGCA	0.478000													35	251					0	0	0.788014	0	0
COL11A1	1301	broad.mit.edu	37	1	103355090	103355090	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:103355090C>G	ENST00000358392.2	-	59	4738	c.4421G>C	c.(4420-4422)gGt>gCt	p.G1474A	COL11A1_ENST00000370096.3_Missense_Mutation_p.G1462A|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1423A|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1346A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1462	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCTGGAGGACCAATCAGGCC	0.388000													14	156					0	0	0.479597	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12812249	12812249	+	Silent	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:12812249G>C	ENST00000379672.5	+	4	534	c.234G>C	c.(232-234)ctG>ctC	p.L78L	ARHGAP44_ENST00000340825.3_Silent_p.L78L|ARHGAP44_ENST00000262444.9_Silent_p.L78L	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	78	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CTCAGTGTCTGATGGAGGGGT	0.428000													21	337					0	0	0.624587	0	0
GPATCH2L	55668	broad.mit.edu	37	14	76644359	76644359	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr14:76644359C>G	ENST00000261530.7	+	7	1147	c.1081C>G	c.(1081-1083)Cct>Gct	p.P361A	GPATCH2L_ENST00000312858.5_Intron	NM_017926.2	NP_060396.2			G patch domain containing 2-like																		TTCTGATTTTCCTCACATTTC	0.338000													3	125					0	0	0.150653	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221277	56221277	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:56221277C>T	ENST00000357606.3	-	3	1455	c.1166G>A	c.(1165-1167)cGg>cAg	p.R389Q	DNAJC14_ENST00000317269.3_Missense_Mutation_p.R389Q|RP11-762I7.5_ENST00000546837.1_Silent_p.A18A|DNAJC14_ENST00000317287.5_Missense_Mutation_p.R389Q			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	389					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TCTTACCAGCCGCTGCCATGG	0.547000													7	157					0	0	0.278610	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88940312	88940312	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr9:88940312G>A	ENST00000375961.2	-	12	1940	c.1726C>T	c.(1726-1728)Cgt>Tgt	p.R576C	ZCCHC6_ENST00000375963.3_Missense_Mutation_p.R576C|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R453C			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	576	PAP-associated 1.				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCTTTGACACGAATACTTATC	0.423000													4	137					0	0	0.150653	0	0
ABCA7	10347	broad.mit.edu	37	19	1043251	1043251	+	Splice_Site	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:1043251G>A	ENST00000263094.6	+	8	1021		c.e8+1		ABCA7_ENST00000433129.1_Splice_Site|ABCA7_ENST00000435683.2_Splice_Site	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7						phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAGCCTGAGTGAGTGACTG	0.657000													17	168					0	0	0.520397	0	0
KALRN	8997	broad.mit.edu	37	3	124114033	124114033	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:124114033G>T	ENST00000360013.3	+	12	2135	c.2008G>T	c.(2008-2010)Gca>Tca	p.A670S	KALRN_ENST00000460856.1_Missense_Mutation_p.A670S|KALRN_ENST00000240874.3_Missense_Mutation_p.A670S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	670					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGATGTCTGTGCAGATTCTGT	0.517000													5	65					0.014758	0.0156615	0.184627	1	0
TOR3A	64222	broad.mit.edu	37	1	179064256	179064256	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:179064256T>C	ENST00000367627.3	+	6	1849	c.1097T>C	c.(1096-1098)aTa>aCa	p.I366T	TOR3A_ENST00000352445.6_Intron	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	366					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						CTGGATGAAATAGCCCAGATG	0.507000													27	311					0	0	0.681144	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714638	138714638	+	Silent	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr9:138714638G>A	ENST00000389532.4	-	11	1933	c.1869C>T	c.(1867-1869)atC>atT	p.I623I	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Silent_p.I345I|CAMSAP1_ENST00000409386.3_Silent_p.I634I	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	623						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCCTAGACACGATGCTCCTCG	0.547000													11	138					0	0	0.387290	0	0
ADCY8	114	broad.mit.edu	37	8	131880122	131880122	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr8:131880122G>A	ENST00000286355.5	-	9	4272	c.2180C>T	c.(2179-2181)aCg>aTg	p.T727M	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	727					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTGTATTGCCGTGATAAATAG	0.353000										HNSCC(32;0.087)			18	113					0	0	0.575678	0	0
MALAT1	378938	broad.mit.edu	37	11	65266792	65266792	+	RNA	SNP	C	C	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:65266792C>A	ENST00000534336.1	+	0	1560					NR_002819.2																						GATGAAGCTTCTTCATGGAGT	0.328000													4	12					0.00909568	0.00975207	0.150653	1	0
ANGEL1	23357	broad.mit.edu	37	14	77269772	77269772	+	Silent	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr14:77269772G>A	ENST00000251089.2	-	7	1672	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	ANGEL1_ENST00000557179.1_Silent_p.I85I	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	520										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GCTGACAAGCGATGCTGCAGA	0.473000													5	91					0	0	0.217242	0	0
CELF1	10658	broad.mit.edu	37	11	47508744	47508744	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:47508744C>G	ENST00000395290.2	-	2	237	c.228G>C	c.(226-228)caG>caC	p.Q76H	CELF1_ENST00000361904.3_Missense_Mutation_p.Q76H|CELF1_ENST00000358597.3_Missense_Mutation_p.Q76H|CELF1_ENST00000395292.2_Missense_Mutation_p.Q76H|CELF1_ENST00000531165.1_Missense_Mutation_p.Q103H|CELF1_ENST00000532048.1_Missense_Mutation_p.Q103H|CELF1_ENST00000310513.5_Missense_Mutation_p.Q76H	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	76	RRM 1.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						GAAGAGCATTCTGAGCTTCTA	0.373000													4	187					0	0	0.217242	0	0
UMOD	7369	broad.mit.edu	37	16	20352551	20352551	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr16:20352551G>A	ENST00000396134.2	-	8	1661	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Missense_Mutation_p.S513F|UMOD_ENST00000396138.4_Missense_Mutation_p.S529F|UMOD_ENST00000302509.4_Missense_Mutation_p.S480F|UMOD_ENST00000396142.2_Missense_Mutation_p.S480F|UMOD_ENST00000570689.1_Missense_Mutation_p.S480F	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	480	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGCCTCAGTGGACAGTGTCAC	0.587000													7	65					0	0	0.248553	0	0
TIMELESS	8914	broad.mit.edu	37	12	56815188	56815188	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:56815188C>A	ENST00000229201.4	-	23	2966	c.2812G>T	c.(2812-2814)Gag>Tag	p.E938*	TIMELESS_ENST00000553532.1_Nonsense_Mutation_p.E939*|TIMELESS_ENST00000554616.1_Nonsense_Mutation_p.E436*	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	939					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCCCGCCGCTCAGCCACCAGC	0.512000													11	205					4.3838e-07	5.03774e-07	0.435327	1	0
NES	10763	broad.mit.edu	37	1	156640663	156640663	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:156640663C>A	ENST00000368223.3	-	4	3449	c.3317G>T	c.(3316-3318)gGa>gTa	p.G1106V		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1106	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCCAGCCCTCCCACCCCCTG	0.657000													12	62					1.5842e-08	1.86166e-08	0.435327	1	0
LRP2	4036	broad.mit.edu	37	2	170042510	170042510	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:170042510G>T	ENST00000263816.3	-	50	9633	c.9348C>A	c.(9346-9348)gaC>gaA	p.D3116E		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3116	EGF-like 11.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGATTGAAGGGTCATGGCATT	0.418000													19	76					2.39187e-15	2.96137e-15	0.575678	1	0
SYNE1	23345	broad.mit.edu	37	6	152469388	152469388	+	Silent	SNP	A	A	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:152469388A>G	ENST00000367255.5	-	137	25369	c.24768T>C	c.(24766-24768)aaT>aaC	p.N8256N	SYNE1_ENST00000448038.1_Silent_p.N8185N|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Silent_p.N7868N|SYNE1_ENST00000356820.4_Silent_p.N2780N|SYNE1_ENST00000354674.4_Silent_p.N411N|SYNE1_ENST00000539504.1_Silent_p.N411N|SYNE1_ENST00000265368.4_Silent_p.N8256N|SYNE1_ENST00000423061.1_Silent_p.N8185N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8256					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGAGGGAGAGATTGGAGGAAG	0.632000										HNSCC(10;0.0054)			6	85					0	0	0.278610	0	0
ERCC2	2068	broad.mit.edu	37	19	45860923	45860923	+	Silent	SNP	T	T	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:45860923T>C	ENST00000391945.4	-	13	1349	c.1272A>G	c.(1270-1272)agA>agG	p.R424R	ERCC2_ENST00000391944.3_Silent_p.R346R	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	424					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TGGTCGGGGTTCTGTCGTCAA	0.637000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				8	65					0	0	0.278610	0	0
DST	667	broad.mit.edu	37	6	56505218	56505218	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:56505218G>A	ENST00000370754.5	-	17	2113	c.2114C>T	c.(2113-2115)aCa>aTa	p.T705I	DST_ENST00000244364.6_Missense_Mutation_p.T201I|DST_ENST00000361203.3_Missense_Mutation_p.T527I|DST_ENST00000370788.2_Missense_Mutation_p.T527I|DST_ENST00000312431.6_Missense_Mutation_p.T527I|DST_ENST00000370765.6_Missense_Mutation_p.T201I|DST_ENST00000446842.2_Missense_Mutation_p.T201I|DST_ENST00000421834.2_Missense_Mutation_p.T527I|DST_ENST00000518935.1_Missense_Mutation_p.T201I|DST_ENST00000370769.4_Missense_Mutation_p.T527I			Q03001	DYST_HUMAN	dystonin	527					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)			TAGGGAAGGTGTTAAACTCTG	0.478000													14	169					0	0	0.457914	0	0
PBRM1	55193	broad.mit.edu	37	3	52643617	52643617	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:52643617C>T	ENST00000356770.4	-	15	2185	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H	PBRM1_ENST00000409057.1_Missense_Mutation_p.R760H|PBRM1_ENST00000409114.3_Missense_Mutation_p.R775H|PBRM1_ENST00000296302.7_Missense_Mutation_p.R760H|PBRM1_ENST00000410007.1_Missense_Mutation_p.R760H|PBRM1_ENST00000409767.1_Missense_Mutation_p.R775H|PBRM1_ENST00000394830.3_Missense_Mutation_p.R760H|PBRM1_ENST00000337303.4_Missense_Mutation_p.R760H			Q86U86	PB1_HUMAN	polybromo 1	760	Bromo 5.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CAGGTCTCTGCGTGTTTCAAG	0.423000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								19	124					0	0	0.539581	0	0
TMEM184C	55751	broad.mit.edu	37	4	148539207	148539207	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr4:148539207G>A	ENST00000296582.3	+	1	674	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	TMEM184C_ENST00000508208.1_Missense_Mutation_p.V34M	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	34						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TCCCCTATGCGTGTGGGAATT	0.502000											OREG0016353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	278					0	0	0.457914	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67854801	67854801	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr16:67854801G>C	ENST00000388833.3	+	3	422	c.45G>C	c.(43-45)caG>caC	p.Q15H	TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000415766.3_Intron|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.Q69H	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	15					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CCAGTGGCCAGACCATTTTGC	0.577000													41	489					0	0	0.870114	0	0
MEP1A	4224	broad.mit.edu	37	6	46761185	46761185	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:46761185C>T	ENST00000230588.4	+	1	59	c.50C>T	c.(49-51)gCc>gTc	p.A17V		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	17					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.A17V(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TTGCTTTTTGCCCACATAGCA	0.348000													4	243					0	0	0.184627	0	0
GOLIM4	27333	broad.mit.edu	37	3	167742808	167742808	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:167742808G>A	ENST00000470487.1	-	13	2388	c.1699C>T	c.(1699-1701)Caa>Taa	p.Q567*	GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.Q539*	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	567	Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCTCTCACTTGCTCGGCTTCT	0.373000													29	269					0	0	0.706142	0	0
HTRA1	5654	broad.mit.edu	37	10	124266371	124266371	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr10:124266371G>A	ENST00000368984.3	+	4	1070	c.942G>A	c.(940-942)atG>atA	p.M314I		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	314	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ACTCAGACATGGACTACATCC	0.602000													15	78					0	0	0.539581	0	0
ZNF329	79673	broad.mit.edu	37	19	58639690	58639690	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:58639690G>A	ENST00000598312.1	-	4	1414	c.1181C>T	c.(1180-1182)tCt>tTt	p.S394F	ZNF329_ENST00000358067.4_Missense_Mutation_p.S394F	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TTTCTCCCCAGAATGGATCTT	0.468000													18	177					0	0	0.557998	0	0
TAGLN	6876	broad.mit.edu	37	11	117075006	117075006	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:117075006G>A	ENST00000532870.1	+	4	1678	c.537G>A	c.(535-537)atG>atA	p.M179I	TAGLN_ENST00000392951.4_Missense_Mutation_p.M179I|TAGLN_ENST00000530649.1_Missense_Mutation_p.M179I			Q01995	TAGL_HUMAN	transgelin	179				M -> V (in Ref. 2; AAA58375).	muscle organ development	cytoplasm	actin binding			central_nervous_system(1)|large_intestine(4)|lung(1)|urinary_tract(1)	7	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		GCCTTCAGATGGGCAGCAACA	0.587000													3	99					0	0	0.115264	0	0
TMEM63C	57156	broad.mit.edu	37	14	77685844	77685844	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr14:77685844G>A	ENST00000298351.4	+	4	298	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	RP11-463C8.4_ENST00000557752.1_3'UTR	NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	52						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCTGTAGCTCGTCCTTGTGGT	0.592000													17	155					0	0	0.520397	0	0
SUZ12	23512	broad.mit.edu	37	17	30321584	30321584	+	Splice_Site	SNP	A	A	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:30321584A>G	ENST00000322652.5	+	13	1668	c.1437_splice	c.e13-1	p.Y480_splice	SUZ12_ENST00000580398.1_Splice_Site_p.Y457_splice	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	480					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TTGTTGCAGTATCATCCAAAA	0.323000			T	JAZF1	endometrial stromal tumours								7	75					0	0	0.278610	0	0
RSPH4A	345895	broad.mit.edu	37	6	116949382	116949382	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:116949382G>C	ENST00000229554.5	+	3	1649	c.1512G>C	c.(1510-1512)caG>caC	p.Q504H	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.Q504H	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	504					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GATTTTATCAGTTTGGTGAAG	0.453000									Kartagener syndrome				12	136					0	0	0.387290	0	0
SUN1	23353	broad.mit.edu	37	7	883166	883166	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr7:883166C>G	ENST00000457378.2	+	7	966	c.730C>G	c.(730-732)Cag>Gag	p.Q244E	SUN1_ENST00000401592.1_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000389574.3_Intron|SUN1_ENST00000403868.1_Missense_Mutation_p.Q223E|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000456758.2_Intron	NM_001171945.1	NP_001165416.1	O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGTAAGTCTCAGTCCTTTAA	0.458000													20	242					0	0	0.557998	0	0
OR6C70	390327	broad.mit.edu	37	12	55863666	55863666	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:55863666C>T	ENST00000327335.4	-	1	256	c.257G>A	c.(256-258)aGg>aAg	p.R86K	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GGTCTTTTCCCTGGTAACAAT	0.378000													18	131					0	0	0.520397	0	0
PSG4	5672	broad.mit.edu	37	19	43699348	43699348	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:43699348C>T	ENST00000405312.3	-	4	1024	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	PSG4_ENST00000433626.2_Missense_Mutation_p.E170K|PSG4_ENST00000244295.9_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	263	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTCTTAGGTTCACAGGTGAAG	0.453000													39	416					0	0	0.804634	0	0
PREX2	80243	broad.mit.edu	37	8	69021852	69021852	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr8:69021852T>G	ENST00000288368.4	+	25	3417	c.3140T>G	c.(3139-3141)aTa>aGa	p.I1047R		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1047					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTTTGTCAAATAGATGAGTAA	0.348000													34	99					0	0	0.769981	0	0
OR2T33	391195	broad.mit.edu	37	1	248436962	248436962	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:248436962C>T	ENST00000318021.2	-	1	176	c.155G>A	c.(154-156)cGg>cAg	p.R52Q		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			CGTGTGGAGCCGGTGGTCCCA	0.527000													33	200					0	0	0.864702	0	0
INTS5	80789	broad.mit.edu	37	11	62416747	62416747	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:62416747G>C	ENST00000330574.2	-	2	857	c.805C>G	c.(805-807)Cag>Gag	p.Q269E		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	269					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GAGGGGGTCTGAGAAGAGCTT	0.577000													4	70					0	0	0.150653	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57992919	57992919	+	Silent	SNP	C	C	T	rs147041101		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:57992919C>T	ENST00000354947.5	+	5	601	c.585C>T	c.(583-585)aaC>aaT	p.N195N	PIP4K2C_ENST00000550465.1_Silent_p.N177N|PIP4K2C_ENST00000540759.2_Silent_p.N195N|PIP4K2C_ENST00000422156.3_Silent_p.N147N			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	195	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GTGTGGACAACGAAGACAGCT	0.512000													14	138					0	0	0.435327	0	0
SLPI	6590	broad.mit.edu	37	20	43882277	43882277	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr20:43882277C>T	ENST00000338380.2	-	2	203	c.183G>A	c.(181-183)aaG>aaA	p.K61K		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	61	Trypsin inhibitory domain.|WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				GACAACATCTCTTCTTCCCTG	0.517000													5	74					0	0	0.184627	0	0
ZC3H4	23211	broad.mit.edu	37	19	47588318	47588318	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:47588318T>C	ENST00000253048.5	-	8	1139	c.1102A>G	c.(1102-1104)Atg>Gtg	p.M368V	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	368	Gly-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CTCACGCCCATGTCCTCGTCA	0.532000													56	331					0	0	0.870114	0	0
ORAOV1	220064	broad.mit.edu	37	11	69482751	69482751	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:69482751A>G	ENST00000279147.4	-	4	364	c.257T>C	c.(256-258)aTt>aCt	p.I86T	ORAOV1_ENST00000536870.1_Missense_Mutation_p.I27T|ORAOV1_ENST00000535657.1_Missense_Mutation_p.I86T|ORAOV1_ENST00000539414.1_Missense_Mutation_p.I86T	NM_153451.2	NP_703152.1	Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	86										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			GATCATTCCAATCAATGATTC	0.403000													9	699					0	0	0.307466	0	0
MROH2B	133558	broad.mit.edu	37	5	41009477	41009477	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr5:41009477C>T	ENST00000399564.4	-	32	3775	c.3325G>A	c.(3325-3327)Gaa>Aaa	p.E1109K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E664K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GCTGGCTTTTCAGCCAGCGCC	0.498000													11	114					0	0	0.479597	0	0
SCN9A	6335	broad.mit.edu	37	2	167055509	167055509	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:167055509G>C	ENST00000375387.4	-	27	5983	c.5643C>G	c.(5641-5643)atC>atG	p.I1881M	SCN9A_ENST00000409672.1_Missense_Mutation_p.I1869M|SCN9A_ENST00000409435.1_Missense_Mutation_p.I1880M|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.I1881M			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1880						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GTGTGGTTGTGATGGGTTCAT	0.428000													29	177					0	0	0.717897	0	0
SPCS3	60559	broad.mit.edu	37	4	177249416	177249416	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr4:177249416G>T	ENST00000503362.1	+	5	591	c.478G>T	c.(478-480)Gtg>Ttg	p.V160L	SPCS3_ENST00000507001.1_3'UTR	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	160					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		TCTACCTCTTGTGACAGGATC	0.348000													13	90					1.5842e-08	1.86166e-08	0.435327	1	0
DAGLB	221955	broad.mit.edu	37	7	6449640	6449640	+	Missense_Mutation	SNP	T	T	C	rs138947170		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr7:6449640T>C	ENST00000297056.6	-	15	2016	c.1847A>G	c.(1846-1848)tAt>tGt	p.Y616C	DAGLB_ENST00000428902.2_3'UTR|DAGLB_ENST00000436575.1_Missense_Mutation_p.Y575C|DAGLB_ENST00000425398.2_Missense_Mutation_p.Y487C	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	616					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CTTGGCGCTATAGTGAGCAGC	0.597000													7	100					0	0	0.248553	0	0
C6orf118	168090	broad.mit.edu	37	6	165715310	165715310	+	Silent	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:165715310G>A	ENST00000543069.1	-	2	770	c.189C>T	c.(187-189)ggC>ggT	p.G63G	C6orf118_ENST00000230301.8_Silent_p.G167G			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	167										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		ATCCAGGAGGGCCCCGTCCAG	0.627000													8	156					0	0	0.278610	0	0
ACOX1	51	broad.mit.edu	37	17	73974674	73974674	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:73974674C>A	ENST00000537812.1	-	2	744	c.96G>T	c.(94-96)atG>atT	p.M32I	ACOX1_ENST00000301608.4_Missense_Mutation_p.M70I|ACOX1_ENST00000591857.1_5'UTR|ACOX1_ENST00000293217.5_Missense_Mutation_p.M70I	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	70					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TCTTCTTCACCATGATGGCAC	0.463000													4	165					0.217242	0.220421	0.217242	1	0
PDZD7	79955	broad.mit.edu	37	10	102781636	102781636	+	Silent	SNP	G	G	A	rs148746572		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr10:102781636G>A	ENST00000370215.3	-	6	1011	c.786C>T	c.(784-786)aaC>aaT	p.N262N		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	262	PDZ 2.					cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		ACCTGACACCGTTGGCTGCCA	0.622000													24	160					0	0	0.639603	0	0
CDS1	1040	broad.mit.edu	37	4	85538789	85538789	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr4:85538789C>T	ENST00000295887.5	+	4	838	c.415C>T	c.(415-417)Cta>Tta	p.L139L		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	139					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TTCTTATGATCTACCATGGTT	0.338000													7	113					0	0	0.248553	0	0
RPS19	6223	broad.mit.edu	37	19	42373230	42373230	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:42373230G>A	ENST00000598742.1	+	4	674	c.302G>A	c.(301-303)cGc>cAc	p.R101H	RPS19_ENST00000593863.1_Missense_Mutation_p.R101H|RPS19_ENST00000221975.2_Missense_Mutation_p.R27H	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	101			R -> H (in DBA1; increased protein degradation; affects assembly into a functional ribosomal subunit).		endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|response to extracellular stimulus|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						AGTGTGGCCCGCCGGGTCCTC	0.617000									Diamond-Blackfan Anemia				6	59					0	0	0.457914	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47351188	47351188	+	RNA	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:47351188G>T	ENST00000505841.1	-	0	434					NR_002788.2																						TGCTGATGTTGAAGCCAGGTT	0.448000													4	66					0.00909568	0.00975207	0.150653	1	0
FAM135B	51059	broad.mit.edu	37	8	139380208	139380208	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr8:139380208T>G	ENST00000395297.1	-	2	189	c.19A>C	c.(19-21)Acg>Ccg	p.T7P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	7										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)			AACTCAACCGTTCCTTGTATT	0.378000										HNSCC(54;0.14)			18	201					0	0	0.557998	0	0
CAMK1G	57172	broad.mit.edu	37	1	209786185	209786185	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:209786185C>T	ENST00000009105.1	+	12	1641	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	CAMK1G_ENST00000361322.2_Missense_Mutation_p.R466W			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	466						Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTCCCACTGCCGGGCAGGGCA	0.502000													8	121					0	0	0.335167	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49791025	49791025	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr10:49791025G>T	ENST00000249601.4	-	2	503	c.207C>A	c.(205-207)taC>taA	p.Y69*	ARHGAP22_ENST00000417912.2_Nonsense_Mutation_p.Y69*|ARHGAP22_ENST00000435790.2_Nonsense_Mutation_p.Y75*|ARHGAP22_ENST00000491108.1_5'UTR	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	69	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTTGTCCTTGTAGTAGAAAA	0.587000													5	206					0.0293803	0.0307091	0.248553	1	0
MKKS	8195	broad.mit.edu	37	20	10393770	10393770	+	Silent	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr20:10393770G>C	ENST00000347364.2	-	3	1155	c.393C>G	c.(391-393)ctC>ctG	p.L131L		NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	131					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TCTCAGACTTGAGATAACTGA	0.398000													5	87					0	0	0.184627	0	0
ZNF473	25888	broad.mit.edu	37	19	50549541	50549541	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:50549541C>G	ENST00000595661.1	+	6	2336	c.1841C>G	c.(1840-1842)tCt>tGt	p.S614C	CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Missense_Mutation_p.S614C|ZNF473_ENST00000270617.3_Missense_Mutation_p.S614C|ZNF473_ENST00000445728.3_Missense_Mutation_p.S602C			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	614					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGAATCCACTCTAGAGTGAGG	0.488000													7	74					0	0	0.278610	0	0
RASIP1	54922	broad.mit.edu	37	19	49224087	49224087	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:49224087G>A	ENST00000222145.4	-	12	3064	c.2860C>T	c.(2860-2862)Cgc>Tgc	p.R954C		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	954					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGCCCATGGCGATAATTGGCT	0.612000													12	246					0	0	0.479597	0	0
RFX1	5989	broad.mit.edu	37	19	14079491	14079491	+	Splice_Site	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:14079491G>T	ENST00000254325.4	-	12	1852	c.1616_splice	c.e12-1	p.L540_splice		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	540					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			ATGGGCTTGAGCCTGGAGTAG	0.692000													6	52					2.7689e-08	3.21749e-08	0.248553	1	0
SASH1	23328	broad.mit.edu	37	6	148865488	148865488	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:148865488A>G	ENST00000367467.3	+	18	3357	c.2882A>G	c.(2881-2883)cAc>cGc	p.H961R		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	961							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GAAGGAACACACCATCCCCTG	0.522000													8	133					0	0	0.278610	0	0
NME6	10201	broad.mit.edu	37	3	48336722	48336722	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:48336722C>T	ENST00000450160.1	-	4	266	c.197G>A	c.(196-198)gGc>gAc	p.G66D	NME6_ENST00000426723.1_Intron|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000451657.1_Missense_Mutation_p.G66D|NME6_ENST00000426689.2_Silent_p.G79G|NME6_ENST00000447314.1_Silent_p.G34G|NME6_ENST00000442597.1_Silent_p.G79G|NME6_ENST00000415053.1_Silent_p.G79G|NME6_ENST00000452211.1_Silent_p.G79G|NME6_ENST00000444069.1_5'UTR|NME6_ENST00000415644.1_Intron|NME6_ENST00000435684.1_Missense_Mutation_p.G66D|NME6_ENST00000421967.1_Silent_p.G87G			O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	0					anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CTCGGATTGGCCCGCTGTGAA	0.552000													3	37					0	0	0.115264	0	0
RNF139	11236	broad.mit.edu	37	8	125498931	125498931	+	Silent	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr8:125498931G>A	ENST00000303545.3	+	2	1413	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	347					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GACCAGAAGAGAGACTTATTC	0.413000													50	350					0	0	0.870114	0	0
TCAIM	285343	broad.mit.edu	37	3	44437946	44437946	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:44437946C>T	ENST00000342649.4	+	7	1177	c.750C>T	c.(748-750)agC>agT	p.S250S	TCAIM_ENST00000417237.1_Silent_p.S250S	NM_173826.3	NP_776187.2			T cell activation inhibitor, mitochondrial																		ATAGTTTAAGCCGCTTAGCAC	0.438000													3	40					0	0	0.115264	0	0
ERV3-1	2086	broad.mit.edu	37	7	64453119	64453119	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr7:64453119C>A	ENST00000394323.2	-	2	786	c.286G>T	c.(286-288)Gtc>Ttc	p.V96F		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		96						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						tttgacccgacatgaatttca	0.463000													6	60					8.12818e-05	9.13872e-05	0.248553	1	0
MYH15	22989	broad.mit.edu	37	3	108147437	108147437	+	Silent	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:108147437G>A	ENST00000273353.3	-	28	3720	c.3664C>T	c.(3664-3666)Cta>Tta	p.L1222L		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1222						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACCTGCTGTAGATTTTCTACC	0.488000													16	213					0	0	0.479597	0	0
CYP26C1	340665	broad.mit.edu	37	10	94824176	94824176	+	Silent	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr10:94824176G>A	ENST00000285949.5	+	4	744	c.744G>A	c.(742-744)gaG>gaA	p.E248E		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	248					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				GGCACCTGGAGGGGGCCATTT	0.612000													3	66					0	0	0.115264	0	0
IGSF10	285313	broad.mit.edu	37	3	151164902	151164902	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:151164902G>T	ENST00000282466.3	-	4	2866	c.2867C>A	c.(2866-2868)aCa>aAa	p.T956K		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	956					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTTACAGATGTCTGATGACT	0.398000													112	260					4.80225e-73	5.98125e-73	0.870114	1	0
WDR53	348793	broad.mit.edu	37	3	196281368	196281368	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:196281368T>C	ENST00000332629.5	-	4	1358	c.791A>G	c.(790-792)aAg>aGg	p.K264R	WDR53_ENST00000429115.1_Missense_Mutation_p.K103R|WDR53_ENST00000433160.1_Missense_Mutation_p.K105R	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	264										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CAACGTGATCTTCCCATCATT	0.468000													19	220					0	0	0.557998	0	0
ZNF574	64763	broad.mit.edu	37	19	42583864	42583864	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:42583864G>T	ENST00000600245.1	+	2	1761	c.1106G>T	c.(1105-1107)tGt>tTt	p.C369F	ZNF574_ENST00000359044.4_Missense_Mutation_p.C369F|ZNF574_ENST00000222339.7_Missense_Mutation_p.C459F|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C369Y(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TGTGTAGACTGTGGCCTGGCC	0.592000													8	96					0.000274275	0.000298687	0.307466	1	0
ZNF771	51333	broad.mit.edu	37	16	30419501	30419501	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr16:30419501A>G	ENST00000319296.5	+	2	504	c.127A>G	c.(127-129)Atg>Gtg	p.M43V	ZNF771_ENST00000566625.1_Missense_Mutation_p.M43V|ZNF771_ENST00000434417.1_Missense_Mutation_p.M43V|ZNF771_ENST00000564550.1_Missense_Mutation_p.M43V			Q7L3S4	ZN771_HUMAN	zinc finger protein 771	43					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding							Colorectal(24;0.193)			CAAGATCCCCATGGACAACAA	0.567000													8	79					0	0	0.361761	0	0
MKKS	8195	broad.mit.edu	37	20	10393971	10393971	+	Silent	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr20:10393971G>C	ENST00000347364.2	-	3	954	c.192C>G	c.(190-192)ctC>ctG	p.L64L		NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	64					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						AAAGGTGACTGAGCAGAGCTG	0.468000													10	112					0	0	0.335167	0	0
SLC25A5	292	broad.mit.edu	37	X	118604391	118604391	+	Silent	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chrX:118604391G>A	ENST00000317881.8	+	3	770	c.654G>A	c.(652-654)caG>caA	p.Q218Q	SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	218					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	TGATCGCACAGACTGTCACTG	0.488000													15	72					0	0	0.479597	0	0
ADH5	128	broad.mit.edu	37	4	100003182	100003182	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr4:100003182T>C	ENST00000296412.8	-	3	250	c.200A>G	c.(199-201)cAt>cGt	p.H67R	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN	alcohol dehydrogenase 5 (class III), chi polypeptide	67					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	AGCACCTTCATGTCCCAAGAT	0.453000													15	74					0	0	0.479597	0	0
AVEN	57099	broad.mit.edu	37	15	34163164	34163164	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr15:34163164C>T	ENST00000306730.3	-	4	713	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	AVEN_ENST00000558136.1_5'UTR	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	195					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		AACGTTGAGTCGGAGGCAGAG	0.443000													5	46					0	0	0.217242	0	0
AHCTF1	25909	broad.mit.edu	37	1	247059207	247059207	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:247059207T>C	ENST00000366508.1	-	13	1885	c.1749A>G	c.(1747-1749)atA>atG	p.I583M	AHCTF1_ENST00000326225.3_Missense_Mutation_p.I557M|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.I548M			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	548	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTGCTGACAATATAGCTTCTA	0.368000													17	200					0	0	0.557998	0	0
ATP4B	496	broad.mit.edu	37	13	114307336	114307336	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr13:114307336T>C	ENST00000335288.4	-	4	448	c.407A>G	c.(406-408)tAc>tGc	p.Y136C		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	136					ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)		Rabeprazole(DB01129)	CTGGAAGAAGTACTGCTCGGA	0.617000													5	96					0	0	0.184627	0	0
CLDN2	9075	broad.mit.edu	37	X	106171760	106171760	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chrX:106171760G>C	ENST00000541806.1	+	2	821	c.302G>C	c.(301-303)gGc>gCc	p.G101A	CLDN2_ENST00000336803.1_Missense_Mutation_p.G101A|CLDN2_ENST00000540876.1_Missense_Mutation_p.G101A	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	101					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCTGTGGTGGGCATGAGATGC	0.572000													16	96					0	0	0.500413	0	0
FAM86C2P	645332	broad.mit.edu	37	11	67564228	67564228	+	RNA	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:67564228C>T	ENST00000528089.1	-	0	912																											GAGGAGCCCGCTGGTGCTCCC	0.627000													4	66					0	0	0.217242	0	0
VIL1	7429	broad.mit.edu	37	2	219314035	219314035	+	Silent	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:219314035C>G	ENST00000248444.5	+	20	2548	c.2460C>G	c.(2458-2460)ctC>ctG	p.L820L	VIL1_ENST00000392114.2_Silent_p.L509L	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	820	HP.|Headpiece.|LPA/PIP2-binding site 3.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACAAAACCTCAAGAAAGAAA	0.448000													34	245					0	0	0.750413	0	0
DNAJB6	10049	broad.mit.edu	37	7	157160131	157160131	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr7:157160131C>T	ENST00000262177.4	+	5	505	c.300C>T	c.(298-300)ttC>ttT	p.F100F	DNAJB6_ENST00000443280.1_Silent_p.F100F|DNAJB6_ENST00000429029.2_Silent_p.F100F|DNAJB6_ENST00000452797.2_Silent_p.F51F	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	100	Gly/Phe-rich.|Interaction with HSP70.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ATGATGTCTTCAGGGAATTTT	0.408000													18	242					0	0	0.575678	0	0
AFF2	2334	broad.mit.edu	37	X	147743550	147743550	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chrX:147743550C>A	ENST00000370460.2	+	3	781	c.302C>A	c.(301-303)tCt>tAt	p.S101Y	AFF2_ENST00000370458.1_Missense_Mutation_p.S97Y|AFF2_ENST00000342251.3_Missense_Mutation_p.S97Y|AFF2_ENST00000370457.5_Missense_Mutation_p.S97Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	101					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAGAATTCTGTGCCCCAG	0.403000													29	170					7.38237e-10	8.8249e-10	0.706142	1	0
HNF4A	3172	broad.mit.edu	37	20	43030122	43030122	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr20:43030122G>A	ENST00000316099.3	+	1	199	c.110G>A	c.(109-111)gGc>gAc	p.G37D	HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000415691.1_Missense_Mutation_p.G37D|HNF4A_ENST00000443598.2_Missense_Mutation_p.G37D	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	37					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			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)			TTGACGATGGGCAATGGTAGG	0.587000													10	96					0	0	0.335167	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58849700	58849700	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:58849700G>C	ENST00000329665.4	+	3	631	c.484G>C	c.(484-486)Gag>Cag	p.E162Q		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	162					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		AAATGTCACTGAGACCCTCAT	0.567000													13	141					0	0	0.411799	0	0
WDFY1	57590	broad.mit.edu	37	2	224809872	224809872	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:224809872C>T	ENST00000233055.4	-	1	232	c.130G>A	c.(130-132)Gag>Aag	p.E44K		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	44						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TACCTGTCCTCGCTGGCCGTG	0.751000													5	26					0	0	0.248553	0	0
P2RY10	27334	broad.mit.edu	37	X	78217001	78217001	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chrX:78217001C>T	ENST00000171757.2	+	4	1264	c.984C>T	c.(982-984)ctC>ctT	p.L328L	P2RY10_ENST00000544091.1_Silent_p.L328L	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	328						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GCTCCCGCCTCATGAGCAAGG	0.438000													18	119					0	0	0.639603	0	0
KIF20B	9585	broad.mit.edu	37	10	91476203	91476203	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr10:91476203G>C	ENST00000416354.1	+	9	1023	c.951G>C	c.(949-951)tgG>tgC	p.W317C	KIF20B_ENST00000260753.4_Missense_Mutation_p.W317C|KIF20B_ENST00000394289.2_Missense_Mutation_p.W317C|KIF20B_ENST00000371728.3_Missense_Mutation_p.W317C			Q96Q89	KI20B_HUMAN	kinesin family member 20B	317	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATCTACAATGGATTCAAGTAT	0.303000													5	46					0	0	0.184627	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209138378	209138378	+	Silent	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:209138378G>T	ENST00000264380.4	+	3	401	c.243G>T	c.(241-243)tcG>tcT	p.S81S	PIKFYVE_ENST00000392202.3_Silent_p.S81S|PIKFYVE_ENST00000308862.6_Silent_p.S81S|PIKFYVE_ENST00000407449.1_Silent_p.S81S	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	81					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGCTCCCTTCGAGGACACAGT	0.493000													10	122					0.000442599	0.000479483	0.335167	1	0
STAB1	23166	broad.mit.edu	37	3	52537039	52537039	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:52537039G>T	ENST00000321725.6	+	7	684	c.608G>T	c.(607-609)cGc>cTc	p.R203L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	203	EGF-like 3.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CAGGAGCTGCGCTGTCCCCAG	0.662000													3	17					0.115264	0.118688	0.115264	1	0
FASTKD1	79675	broad.mit.edu	37	2	170403114	170403114	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:170403114T>A	ENST00000453153.2	-	8	1661	c.1315A>T	c.(1315-1317)Att>Ttt	p.I439F	FASTKD1_ENST00000453929.2_Missense_Mutation_p.I439F	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	439					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						ACGGCTTCAATTCGGGATATC	0.408000													13	105					0	0	0.411799	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37949128	37949128	+	Silent	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:37949128G>C	ENST00000373087.6	+	6	1832	c.1716G>C	c.(1714-1716)gtG>gtC	p.V572V		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	572					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGAGGCTGTGATGGGGCGCT	0.657000													8	46					0	0	0.278610	0	0
HTR1A	3350	broad.mit.edu	37	5	63257049	63257049	+	Silent	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr5:63257049G>A	ENST00000323865.3	-	1	731	c.498C>T	c.(496-498)ctC>ctT	p.L166L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	166					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GGATAGAGATGAGGAAGCCAA	0.607000													8	99					0	0	0.361761	0	0
ADCY3	109	broad.mit.edu	37	2	25062774	25062774	+	Silent	SNP	T	T	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:25062774T>A	ENST00000260600.5	-	6	2174	c.1323A>T	c.(1321-1323)gtA>gtT	p.V441V	ADCY3_ENST00000405392.1_Silent_p.V52V	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	441					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCTTGTTGGCTACAGTGACAT	0.672000													26	152					0	0	0.706142	0	0
AFF3	3899	broad.mit.edu	37	2	100623856	100623856	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:100623856C>G	ENST00000317233.4	-	5	476	c.241G>C	c.(241-243)Gac>Cac	p.D81H	AFF3_ENST00000409236.1_Missense_Mutation_p.D81H|AFF3_ENST00000409579.1_Missense_Mutation_p.D106H|AFF3_ENST00000356421.2_Missense_Mutation_p.D106H	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	81					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GTTAAAAAGTCTTTCATTTCA	0.418000													32	161					0	0	0.760397	0	0
FER1L6	654463	broad.mit.edu	37	8	125076788	125076788	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr8:125076788G>T	ENST00000522917.1	+	26	3735	c.3529G>T	c.(3529-3531)Gag>Tag	p.E1177*	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Nonsense_Mutation_p.E1177*	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1177						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGTAGCCCAGGAGCCACCAAA	0.527000													7	120					0.000274275	0.000298687	0.307466	1	0
MPND	84954	broad.mit.edu	37	19	4345805	4345805	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:4345805A>T	ENST00000599840.1	+	3	393	c.358A>T	c.(358-360)Acc>Tcc	p.T120S	MPND_ENST00000262966.8_Missense_Mutation_p.T120S|MPND_ENST00000359935.4_Missense_Mutation_p.T120S			Q8N594	MPND_HUMAN	MPN domain containing	120							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCGGGCAGACCTTCAACTC	0.622000													9	86					0	0	0.307466	0	0
PSMD2	5708	broad.mit.edu	37	3	184023708	184023708	+	Silent	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:184023708C>G	ENST00000310118.4	+	13	2250	c.1692C>G	c.(1690-1692)ctC>ctG	p.L564L	PSMD2_ENST00000435761.1_Silent_p.L405L|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Silent_p.L434L	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	564					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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GACTGGGTCTCAACCACCTGG	0.493000											OREG0015947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	132					0	0	0.217242	0	0
KIF14	9928	broad.mit.edu	37	1	200529861	200529861	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:200529861C>A	ENST00000367350.4	-	26	4657	c.4219G>T	c.(4219-4221)Gcc>Tcc	p.A1407S		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1407	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TGGACACTGGCAGCTTTATTG	0.383000													23	188					3.83957e-06	4.3641e-06	0.639603	1	0
PES1	23481	broad.mit.edu	37	22	30985250	30985250	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr22:30985250C>T	ENST00000354694.6	-	2	138	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	PES1_ENST00000335214.6_Missense_Mutation_p.R11Q|PES1_ENST00000402284.3_Missense_Mutation_p.R11Q|PES1_ENST00000405677.1_5'UTR|PES1_ENST00000402281.1_5'UTR	NM_001243225.1|NM_014303.3	NP_001230154.1|NP_055118.1	O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	11	Required for 28S ribosomal RNA processing.|Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GGCCGAGCCTCGTTCATACTG	0.498000													4	49					0	0	0.150653	0	0
TIMELESS	8914	broad.mit.edu	37	12	56814387	56814387	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:56814387C>T	ENST00000229201.4	-	26	3345	c.3191G>A	c.(3190-3192)cGc>cAc	p.R1064H	TIMELESS_ENST00000553532.1_Missense_Mutation_p.R1065H|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R562H	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1065					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCCTAGCTTGCGCAACAGCTG	0.517000													11	148					0	0	0.387290	0	0
FLT4	2324	broad.mit.edu	37	5	180048861	180048861	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr5:180048861C>A	ENST00000261937.6	-	13	1779	c.1701G>T	c.(1699-1701)gaG>gaT	p.E567D	FLT4_ENST00000393347.3_Missense_Mutation_p.E567D|FLT4_ENST00000502649.1_Missense_Mutation_p.E567D|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	567	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCTCTAGTAGCTCCTCGGATG	0.622000													11	97					0.00010058	0.000112476	0.411799	1	0
BMPER	168667	broad.mit.edu	37	7	34097738	34097738	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr7:34097738G>A	ENST00000297161.2	+	11	1369	c.995G>A	c.(994-996)cGc>cAc	p.R332H	BMPER_ENST00000426693.1_Missense_Mutation_p.R332H	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	332	VWFC 5.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.R332H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ACGGAGTGTCGCAATAAGCAG	0.493000													8	86					0	0	0.278610	0	0
DGKG	1608	broad.mit.edu	37	3	186006525	186006525	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:186006525G>A	ENST00000265022.3	-	6	1057	c.518C>T	c.(517-519)aCg>aTg	p.T173M	DGKG_ENST00000544847.1_Missense_Mutation_p.T173M|DGKG_ENST00000344484.4_Missense_Mutation_p.T173M|DGKG_ENST00000382164.4_Missense_Mutation_p.T173M	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	173					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AGGCCTCCCCGTCTCCAGCAG	0.557000													28	365					0	0	0.706142	0	0
MICALCL	84953	broad.mit.edu	37	11	12316364	12316364	+	Silent	SNP	T	T	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:12316364T>C	ENST00000256186.2	+	3	1677	c.1386T>C	c.(1384-1386)ccT>ccC	p.P462P		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	462	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.P462P(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ctcctcctcctcctcctcctc	0.582000													3	12					0	0	0.115264	0	0
DST	667	broad.mit.edu	37	6	56505116	56505116	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:56505116G>C	ENST00000370754.5	-	17	2215	c.2216C>G	c.(2215-2217)tCa>tGa	p.S739*	DST_ENST00000244364.6_Nonsense_Mutation_p.S235*|DST_ENST00000361203.3_Nonsense_Mutation_p.S561*|DST_ENST00000370788.2_Nonsense_Mutation_p.S561*|DST_ENST00000312431.6_Nonsense_Mutation_p.S561*|DST_ENST00000370765.6_Nonsense_Mutation_p.S235*|DST_ENST00000446842.2_Nonsense_Mutation_p.S235*|DST_ENST00000421834.2_Nonsense_Mutation_p.S561*|DST_ENST00000518935.1_Nonsense_Mutation_p.S235*|DST_ENST00000370769.4_Nonsense_Mutation_p.S561*			Q03001	DYST_HUMAN	dystonin	561					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)			AACTAATCCTGATGGGAAACC	0.453000													9	140					0	0	0.387290	0	0
GRIP2	80852	broad.mit.edu	37	3	14562009	14562009	+	RNA	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:14562009C>T	ENST00000273083.3	-	0	813							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TTGACTATTTCCACCATCAAG	0.552000													4	38					0	0	0.150653	0	0
MTMR4	9110	broad.mit.edu	37	17	56582201	56582201	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:56582201C>T	ENST00000323456.5	-	12	1362	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	MTMR4_ENST00000579925.1_Missense_Mutation_p.R413H	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	413	Myotubularin phosphatase.|Substrate binding (By similarity).					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGCGGTGTGCGGTCCCAGCC	0.532000													4	215					0	0	0.184627	0	0
CCND1	595	broad.mit.edu	37	11	69457891	69457891	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:69457891C>T	ENST00000227507.2	+	2	518	c.291C>T	c.(289-291)agC>agT	p.S97S	CCND1_ENST00000536559.1_Intron	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	97	Cyclin N-terminal.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	TGAAAAAGAGCCGCCTGCAGC	0.602000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			4	101					0	0	0.150653	0	0
COL13A1	1305	broad.mit.edu	37	10	71707080	71707080	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr10:71707080C>T	ENST00000356340.3	+	36	2543	c.2007C>T	c.(2005-2007)ccC>ccT	p.P669P	COL13A1_ENST00000398974.3_Silent_p.P657P|COL13A1_ENST00000398971.3_Silent_p.P654P|COL13A1_ENST00000398978.3_Silent_p.P669P|COL13A1_ENST00000398973.3_Silent_p.P643P|COL13A1_ENST00000354547.3_Silent_p.P647P|COL13A1_ENST00000398966.3_Silent_p.P647P|COL13A1_ENST00000357811.3_Silent_p.P635P|COL13A1_ENST00000398968.3_Silent_p.P650P|COL13A1_ENST00000522165.1_Silent_p.P638P|COL13A1_ENST00000398969.3_Silent_p.P597P|COL13A1_ENST00000398972.3_Silent_p.P655P|COL13A1_ENST00000517713.1_Silent_p.P620P|COL13A1_ENST00000398964.3_Silent_p.P640P|COL13A1_ENST00000520267.1_Silent_p.P597P|COL13A1_ENST00000520133.1_Silent_p.P591P			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	669	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	ATGGACCACCCGGGGACAAGG	0.517000													4	80					0	0	0.150653	0	0
PTCH1	5727	broad.mit.edu	37	9	98209663	98209663	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr9:98209663G>A	ENST00000430669.2	-	23	4262	c.3677C>T	c.(3676-3678)tCc>tTc	p.S1226F	PTCH1_ENST00000421141.1_Missense_Mutation_p.S1141F|PTCH1_ENST00000429896.2_Missense_Mutation_p.S1141F|PTCH1_ENST00000437951.1_Missense_Mutation_p.S1226F|PTCH1_ENST00000375274.2_Missense_Mutation_p.S1291F|PTCH1_ENST00000418258.1_Missense_Mutation_p.S1141F|PTCH1_ENST00000331920.6_Missense_Mutation_p.S1292F			Q13635	PTC1_HUMAN	patched 1	1292					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGGAGGCAGGGACCCTGAGTC	0.652000													15	184					0	0	0.500413	0	0
PTGFRN	5738	broad.mit.edu	37	1	117487601	117487601	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:117487601C>T	ENST00000393203.2	+	3	866	c.719C>T	c.(718-720)gCc>gTc	p.A240V		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	240	Ig-like C2-type 2.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GCTCTGTCTGCCGACCAGGGC	0.657000													3	55					0	0	0.150653	0	0
RHO	6010	broad.mit.edu	37	3	129251462	129251462	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:129251462C>G	ENST00000296271.3	+	4	877	c.783C>G	c.(781-783)ttC>ttG	p.F261L		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	261					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TCATCGCTTTCCTGATCTGCT	0.592000													7	109					0	0	0.278610	0	0
DARC	2532	broad.mit.edu	37	1	159176142	159176142	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:159176142G>A	ENST00000537147.1	+	3	1756	c.913G>A	c.(913-915)Gcc>Acc	p.A305T	DARC_ENST00000368122.2_Missense_Mutation_p.A305T|DARC_ENST00000368121.2_Missense_Mutation_p.A307T			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	305					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CCTGCTCCTCGCCCTATTCTG	0.592000													97	539					0	0	0.870114	0	0
CD163	9332	broad.mit.edu	37	12	7637727	7637727	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:7637727G>C	ENST00000359156.4	-	11	2946	c.2744C>G	c.(2743-2745)gCc>gGc	p.A915G	CD163_ENST00000432237.2_Missense_Mutation_p.A915G|CD163_ENST00000396620.3_Missense_Mutation_p.A948G|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Missense_Mutation_p.A903G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	915	SRCR 8.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			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						CGAGGGGCTGGCCAGTCTCTT	0.517000													18	214					0	0	0.539581	0	0
CTDNEP1	23399	broad.mit.edu	37	17	7150389	7150389	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:7150389G>C	ENST00000573600.1	-	4	703	c.282C>G	c.(280-282)atC>atG	p.I94M	CTDNEP1_ENST00000574322.1_Missense_Mutation_p.I94M|RP1-4G17.5_ENST00000577138.1_3'UTR|CTDNEP1_ENST00000572043.1_De_novo_Start_InFrame|CTDNEP1_ENST00000318988.6_Missense_Mutation_p.I94M			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	94	FCP1 homology.				nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						ACACCTTGAGGATGAAGTCAG	0.562000													41	159					0	0	0.847076	0	0
IFT80	57560	broad.mit.edu	37	3	160099510	160099510	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:160099510G>A	ENST00000326448.7	-	3	472	c.40C>T	c.(40-42)Caa>Taa	p.Q14*	IFT80_ENST00000496589.1_Intron|RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000483465.1_Intron|IFT80_ENST00000477495.1_5'UTR	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	14				Q -> I (in Ref. 4; BAA92612).		cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ACTAATTCTTGATGTGTCACC	0.353000													27	252					0	0	0.667858	0	0
OR2W5	441932	broad.mit.edu	37	1	247655359	247655359	+	RNA	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:247655359G>T	ENST00000522351.1	+	0	990							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGGAGAAAGGGGCTGGGGAG	0.488000													10	230					6.42651e-13	7.7716e-13	0.387290	1	0
PTENP1	11191	broad.mit.edu	37	9	33675711	33675711	+	RNA	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr9:33675711C>G	ENST00000532280.1	-	0	1786					NR_023917.1																						CTAGATACTCCTTGTCATTAT	0.353000													44	133					0	0	0.834066	0	0
STAR	6770	broad.mit.edu	37	8	38006273	38006273	+	Splice_Site	SNP	C	C	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr8:38006273C>A	ENST00000276449.4	-	2	511		c.e2-1		RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein						C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		TGCCTCAGCCCTGCAGAAGGG	0.592000													5	97					0.014758	0.0156615	0.184627	1	0
HERC1	8925	broad.mit.edu	37	15	64067311	64067311	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr15:64067311G>A	ENST00000443617.2	-	2	599	c.512C>T	c.(511-513)gCg>gTg	p.A171V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	171					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCTTAGAAGCGCAAATAATAA	0.448000													5	387					0	0	0.217242	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610609	47610609	+	Missense_Mutation	SNP	G	G	A	rs141856283		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:47610609G>A	ENST00000371891.3	+	9	1220	c.1189G>A	c.(1189-1191)Gtc>Atc	p.V397I	CYP4A22_ENST00000371890.3_Missense_Mutation_p.V299I|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Missense_Mutation_p.V397I|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	397						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGCACTCCCGTCACCTTCCC	0.582000													7	58					0	0	0.307466	0	0
GCN1L1	10985	broad.mit.edu	37	12	120597955	120597955	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:120597955C>T	ENST00000300648.6	-	23	2553	c.2541G>A	c.(2539-2541)cgG>cgA	p.R847R		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	847					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCCTGCAGCCGCCTCCGGA	0.612000													4	86					0	0	0.150653	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409510	59409510	+	Silent	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr8:59409510G>A	ENST00000301645.3	-	3	698	c.561C>T	c.(559-561)atC>atT	p.I187I		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	187					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CTCTGCCAAAGATAGTTAAAT	0.453000									Neonatal Giant Cell Hepatitis				28	218					0	0	0.693898	0	0
AKAP13	11214	broad.mit.edu	37	15	86122930	86122930	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr15:86122930A>T	ENST00000394518.2	+	7	1726	c.1631A>T	c.(1630-1632)gAt>gTt	p.D544V	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.D544V	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	544					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGTTCCCTGGATGGTAACAAA	0.468000													15	126					0	0	0.500413	0	0
TMTC2	160335	broad.mit.edu	37	12	83251023	83251023	+	Silent	SNP	C	C	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:83251023C>A	ENST00000549919.1	+	3	2105	c.300C>A	c.(298-300)tcC>tcA	p.S100S	TMTC2_ENST00000548305.1_Silent_p.S106S|TMTC2_ENST00000321196.3_Silent_p.S106S			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	106						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CAAGCTTCTCCAAGATCCTCC	0.522000													16	141					2.62699e-14	3.2142e-14	0.479597	1	0
CLCN3	1182	broad.mit.edu	37	4	170628124	170628124	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr4:170628124G>T	ENST00000513761.1	+	11	2415	c.1856G>T	c.(1855-1857)tGg>tTg	p.W619L	CLCN3_ENST00000504131.2_Missense_Mutation_p.W602L|CLCN3_ENST00000360642.3_Missense_Mutation_p.W592L|CLCN3_ENST00000347613.4_Missense_Mutation_p.W619L	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	619					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		ACCAGTAAATGGGTTGGAGAT	0.438000													6	130					1.12685e-05	1.27383e-05	0.307466	1	0
MPND	84954	broad.mit.edu	37	19	4357346	4357346	+	Missense_Mutation	SNP	G	G	A	rs61730129		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:4357346G>A	ENST00000599840.1	+	9	1128	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000262966.8_Missense_Mutation_p.A365T|MPND_ENST00000359935.4_Missense_Mutation_p.A315T			Q8N594	MPND_HUMAN	MPN domain containing	365	MPN.						peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACATCGACGCACAGATGGA	0.672000													9	41					0	0	0.387290	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602370	138602370	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr7:138602370C>T	ENST00000440172.1	-	2	2050	c.2002G>A	c.(2002-2004)Gag>Aag	p.E668K	KIAA1549_ENST00000422774.1_Missense_Mutation_p.E668K|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E618K	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	668	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTAAATGTCTCAACCAAGGGA	0.502000			O	BRAF	pilocytic astrocytoma								3	24					0	0	0.115264	0	0
IGSF10	285313	broad.mit.edu	37	3	151164903	151164903	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:151164903T>C	ENST00000282466.3	-	4	2865	c.2866A>G	c.(2866-2868)Aca>Gca	p.T956A		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	956					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTTACAGATGTCTGATGACTA	0.398000													114	261					0	0	0.870114	0	0
ELMO3	79767	broad.mit.edu	37	16	67234439	67234439	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr16:67234439C>T	ENST00000393997.2	+	6	715	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	ELMO3_ENST00000571638.1_3'UTR|ELMO3_ENST00000360833.1_Missense_Mutation_p.P203S|ELMO3_ENST00000477898.1_Missense_Mutation_p.P54S	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	167					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TCTGAGCATCCCCTTTGTGAG	0.647000													14	109					0	0	0.457914	0	0
SPON1	10418	broad.mit.edu	37	11	14282159	14282159	+	RNA	SNP	A	A	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:14282159A>T	ENST00000310358.7	+	0	2392							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TGCTGTCCCCATGGTCCGAGT	0.547000													10	85					0	0	0.335167	0	0
SETDB2	83852	broad.mit.edu	37	13	50054403	50054403	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr13:50054403C>T	ENST00000354234.4	+	7	1824	c.918C>T	c.(916-918)tcC>tcT	p.S306S	SETDB2_ENST00000258672.5_Silent_p.S306S|SETDB2_ENST00000317257.8_Silent_p.S318S	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	318	Pre-SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		CCAAAACTTCCCCCTTGTCAA	0.408000													23	270					0	0	0.608945	0	0
ANKAR	150709	broad.mit.edu	37	2	190608094	190608094	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:190608094C>G	ENST00000520309.1	+	21	3992	c.3904C>G	c.(3904-3906)Cag>Gag	p.Q1302E	ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.Q1231E|ANKAR_ENST00000313581.4_Missense_Mutation_p.Q1302E|ANKAR_ENST00000281412.6_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1302						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TAAACCTAATCAGTTCATTCG	0.368000													12	78					0	0	0.387290	0	0
ZNF606	80095	broad.mit.edu	37	19	58489924	58489924	+	Silent	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:58489924G>A	ENST00000341164.4	-	7	2744	c.2124C>T	c.(2122-2124)taC>taT	p.Y708Y	ZNF606_ENST00000536132.1_Silent_p.Y618Y	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CATTACACCTGTATGGTTTCT	0.393000													23	147					0	0	0.639603	0	0
PSMC1	5700	broad.mit.edu	37	14	90734636	90734636	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr14:90734636G>T	ENST00000261303.8	+	8	863	c.760G>T	c.(760-762)Gaa>Taa	p.E254*	PSMC1_ENST00000543772.2_Nonsense_Mutation_p.E181*	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	254					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	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		GGTTGGCTCTGAACTTATTCA	0.403000													5	92					0.0215528	0.0227562	0.217242	1	0
OR2M7	391196	broad.mit.edu	37	1	248486986	248486986	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:248486986C>A	ENST00000317965.2	-	1	913	c.885G>T	c.(883-885)aaG>aaT	p.K295N		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGTCACTTCCTTGTTGCGGA	0.423000													13	108					1.05317e-09	1.25177e-09	0.457914	1	0
ZFP28	140612	broad.mit.edu	37	19	57065936	57065936	+	Silent	SNP	C	C	T	rs61734808	byFrequency	TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:57065936C>T	ENST00000301318.3	+	8	1853	c.1782C>T	c.(1780-1782)tgC>tgT	p.C594C	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GTAAAGAGTGCGGAAAAGCTT	0.413000													4	238					0	0	0.184627	0	0
THRB	7068	broad.mit.edu	37	3	24174936	24174936	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:24174936T>G	ENST00000396671.2	-	9	1104	c.756A>C	c.(754-756)caA>caC	p.Q252H	THRB_ENST00000356447.4_Missense_Mutation_p.Q252H|THRB_ENST00000416420.1_Missense_Mutation_p.Q252H|THRB_ENST00000280696.5_Missense_Mutation_p.Q267H	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	252	Interaction with NR2F6.|Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CTATTGGTGCTTGTCCAATGT	0.393000													5	82					0	0	0.184627	0	0
TIMELESS	8914	broad.mit.edu	37	12	56814831	56814831	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:56814831C>T	ENST00000229201.4	-	24	3107	c.2953G>A	c.(2953-2955)Gaa>Aaa	p.E985K	TIMELESS_ENST00000553532.1_Missense_Mutation_p.E986K|TIMELESS_ENST00000554616.1_Missense_Mutation_p.E483K	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	986					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCCCCTTCTTCTTCCTCTTCG	0.478000													13	236					0	0	0.457914	0	0
C16orf91	283951	broad.mit.edu	37	16	1478469	1478469	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr16:1478469G>A	ENST00000310355.1	-	2	181	c.182C>T	c.(181-183)gCg>gTg	p.A61V				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GTCCACCTGCGCCCGAAGCCT	0.672000													4	27					0	0	0.150653	0	0
MED26	9441	broad.mit.edu	37	19	16687957	16687957	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:16687957C>T	ENST00000263390.3	-	3	946	c.684G>A	c.(682-684)ccG>ccA	p.P228P	CTD-3222D19.2_ENST00000409035.1_Silent_p.P236P	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	228	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						AGCTGGTGTGCGGTCGCACGG	0.682000													8	113					0	0	0.278610	0	0
KNCN	148930	broad.mit.edu	37	1	47016763	47016763	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:47016763C>G	ENST00000481882.2	-	1	436	c.125G>C	c.(124-126)gGt>gCt	p.G42A	MKNK1-AS1_ENST00000602433.1_RNA|KNCN_ENST00000396314.3_Missense_Mutation_p.G42A			A6PVL3	KNCN_HUMAN	kinocilin	42						integral to membrane				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)					AATAAAGACACCGCCCATGGC	0.632000													7	110					0	0	0.361761	0	0
FANCI	55215	broad.mit.edu	37	15	89836226	89836226	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr15:89836226C>G	ENST00000310775.7	+	22	2309	c.2223C>G	c.(2221-2223)atC>atG	p.I741M	FANCI_ENST00000300027.8_Missense_Mutation_p.I741M	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	741					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AAAATAATATCTGTGCTTTTC	0.313000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	139					0	0	0.479597	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803746	142803746	+	RNA	SNP	A	A	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:142803746A>G	ENST00000423385.1	-	0	1219																											actatggattagagctgatta	0.393000													3	6					0	0	0.115264	0	0
PTPN9	5780	broad.mit.edu	37	15	75815511	75815511	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr15:75815511G>C	ENST00000306726.2	-	4	885	c.373C>G	c.(373-375)Cat>Gat	p.H125D		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	125	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTACCACATGTTGGACTGAC	0.428000													5	62					0	0	0.184627	0	0
SLC2A5	6518	broad.mit.edu	37	1	9129568	9129568	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:9129568delC	ENST00000377424.4	-	1	207	c.28delG	c.(28-30)aafs	p.E10fs	SLC2A5_ENST00000377414.3_Frame_Shift_Del_p.E10fs|SLC2A5_ENST00000535586.1_5'UTR	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	10					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTCACCCCTTCCTTCATGCTC	0.587													38	483	---	---	---	---					
ATP1A4	480	broad.mit.edu	37	1	160134105	160134106	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:160134105_160134106insT	ENST00000368081.4	+	7	1409_1410	c.938_939insT	c.(937-939)attfs	p.I313fs		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	313					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTGGTGTCACTTTTTTTGCGC	0.535													20	366	---	---	---	---					
SOAT1	6646	broad.mit.edu	37	1	179310294	179310295	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:179310294_179310295insT	ENST00000367619.3	+	7	772_773	c.629_630insT	c.(628-630)tagfs	p.*210fs	SOAT1_ENST00000539888.1_Frame_Shift_Ins_p.*145fs|SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000540564.1_Frame_Shift_Ins_p.*152fs	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	210					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GCCACTGGCTATAGCAAGAGTT	0.431													35	486	---	---	---	---					
C1orf35	79169	broad.mit.edu	37	1	228288853	228288854	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:228288853_228288854insT	ENST00000272139.4	-	8	1004_1005	c.770_771insA	c.(769-771)cgafs	p.R257fs	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	257										large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				AGCCTCTGTCATGCCACCTGCG	0.634													12	116	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150816	65150816	+	RNA	DEL	A	A	-			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr7:65150816delA	ENST00000430126.2	+	0	757																											TTCATCCCTCACCCCCCCCCC	0.463													3	6	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN								nucleus	binding	p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572													5	10	---	---	---	---					
FAM74A3	728495	broad.mit.edu	37	9	40715923	40715924	+	RNA	DEL	AA	AA	-	rs62565543		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr9:40715923_40715924delAA	ENST00000604146.1	+	0	262_263					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAGACGTGGAAAGAGCTCAGA	0.569													5	9	---	---	---	---					
SPATA31D5P	347127	broad.mit.edu	37	9	84528568	84528568	+	RNA	DEL	A	A	-			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr9:84528568delA	ENST00000527857.1	+	0	217					NR_026851.1																						AATGATATCCAAAAGGTAAGG	0.398													4	5	---	---	---	---					
TTC17	55761	broad.mit.edu	37	11	43413095	43413096	+	Frame_Shift_Ins	INS	-	-	A	rs138517922	by1000genomes	TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:43413095_43413096insA	ENST00000039989.4	+	4	514_515	c.500_501insA	c.(499-501)ctafs	p.L167fs	TTC17_ENST00000299240.6_Frame_Shift_Ins_p.L167fs|RP11-484D2.4_ENST00000394183.2_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	167							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CTAGAACTTCCATATAGTATAC	0.356													21	126	---	---	---	---					
OR6C65	403282	broad.mit.edu	37	12	55794772	55794773	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:55794772_55794773insT	ENST00000379665.2	+	1	559_560	c.460_461insT	c.(460-462)tttfs	p.F154fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTTTCTCATTATTTTTCCCCCC	0.436													27	422	---	---	---	---					
XPOT	11260	broad.mit.edu	37	12	64812755	64812755	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:64812755delT	ENST00000332707.5	+	6	899	c.370delT	c.(370-372)ttfs	p.F126fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	126	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.F126fs*6(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GTGGCCCAAGTTTTTTTTTGA	0.443													7	322	---	---	---	---					
SLITRK6	84189	broad.mit.edu	37	13	86368190	86368191	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr13:86368190_86368191insT	ENST00000400286.2	-	2	3051_3052	c.2453_2454insA	c.(2452-2454)agafs	p.R818fs		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	818						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CAAAATACTCATTTTTTGTCTG	0.401													11	174	---	---	---	---					
SOX21	11166	broad.mit.edu	37	13	95364121	95364135	+	In_Frame_Del	DEL	GGCCTCGTCGATGAA	GGCCTCGTCGATGAA	-			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr13:95364121_95364135delGGCCTCGTCGATGAA	ENST00000376945.2	-	1	254_268	c.169_183delTTCATCGACGAGGCC	c.(169-183)del	p.FIDEA57del		NM_007084.2	NP_009015.1	Q9Y651	SOX21_HUMAN	SRY (sex determining region Y)-box 21	57					regulation of transcription from RNA polymerase II promoter|stem cell differentiation	nucleus	DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					GTAGACGCTTGGCCTCGTCGATGAACGGCCGCTTC	0.614													24	104	---	---	---	---					
TOX4	9878	broad.mit.edu	37	14	21963465	21963466	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr14:21963465_21963466insA	ENST00000405508.1	+	9	1995_1996	c.1719_1720insA	c.(1717-1722)gtggtcfs	p.V574fs	TOX4_ENST00000448790.2_Frame_Shift_Ins_p.V551fs|TOX4_ENST00000262709.3_Frame_Shift_Ins_p.V574fs			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	574						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CTCGATGTGTGAGGTCTGGTTG	0.505													15	218	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579514	7579514	+	Frame_Shift_Del	DEL	G	G	-	rs144386518		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:7579514delG	ENST00000420246.2	-	4	305	c.173delC	c.(172-174)cafs	p.P58fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.P58fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P58fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P58fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P58fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P58fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	58	Interaction with HRMT1L2.		P -> Q (in a sporadic cancer; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P58L(1)|p.P58fs*65(1)|p.E51fs*59(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1)|p.P58Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATCTGGACCTGGGTCTTCAGT	0.602		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			121	266	---	---	---	---					
CYB561	1534	broad.mit.edu	37	17	61511870	61511870	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:61511870delA	ENST00000392976.1	-	6	948	c.649delT	c.(649-651)acfs	p.Y217fs	CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000392975.2_Frame_Shift_Del_p.Y217fs|CYB561_ENST00000584031.1_3'UTR|CYB561_ENST00000542042.1_Frame_Shift_Del_p.Y284fs|CYB561_ENST00000582034.1_Frame_Shift_Del_p.Y188fs|CYB561_ENST00000448884.2_3'UTR|CYB561_ENST00000581573.1_Frame_Shift_Del_p.Y217fs|CYB561_ENST00000360793.3_Frame_Shift_Del_p.Y217fs|CYB561_ENST00000582297.1_Intron|CYB561_ENST00000582997.1_Frame_Shift_Del_p.Y224fs	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	217	Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		GTCAAGATGTAGAGCACCGCC	0.657													7	30	---	---	---	---					
PPP2R1A	5518	broad.mit.edu	37	19	52724304	52724305	+	Frame_Shift_Ins	INS	-	-	T	rs141690261		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:52724304_52724305insT	ENST00000322088.6	+	12	1494_1495	c.1436_1437insT	c.(1435-1437)cgcfs	p.R479fs	PPP2R1A_ENST00000444322.2_Frame_Shift_Ins_p.R424fs|PPP2R1A_ENST00000462990.1_Frame_Shift_Ins_p.R300fs	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	479	PP2A subunit C binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GAGTGGGCCCATGCCACAATCA	0.559			Mis		clear cell ovarian carcinoma								21	152	---	---	---	---					
TFAP2C	7022	broad.mit.edu	37	20	55208539	55208540	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr20:55208539_55208540insT	ENST00000201031.2	+	4	960_961	c.717_718insT	c.(715-720)aaacaafs	p.KQ239fs	TFAP2C_ENST00000544508.1_Frame_Shift_Ins_p.KQ70fs	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	239					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CTACGTCTAAATACAAAGTGAC	0.535													19	112	---	---	---	---					
