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
KANK4	163782	broad.mit.edu	37	1	62734112	62734112	+	Missense_Mutation	SNP	C	C	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:62734112C>A	ENST00000371153.4	-	5	2456	c.2078G>T	c.(2077-2079)aGc>aTc	p.S693I	KANK4_ENST00000354381.3_Missense_Mutation_p.S65I|KANK4_ENST00000371150.1_Missense_Mutation_p.S49I	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	693										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTCTGCCTCGCTGTCAGACAA	0.572000													20	36					1.90627e-21	2.10647e-21	1	1	0
PDE3A	5139	broad.mit.edu	37	12	20769251	20769251	+	Missense_Mutation	SNP	T	T	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr12:20769251T>A	ENST00000359062.3	+	4	1397	c.1357T>A	c.(1357-1359)Ttg>Atg	p.L453M	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	453					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TCTACCCACCTTGGAGCCTGC	0.562000													18	28					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1093740	1093740	+	Silent	SNP	G	G	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr11:1093740G>C	ENST00000441003.2	+	30	5586	c.5559G>C	c.(5557-5559)ccG>ccC	p.P1853P	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Silent_p.P141P	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1856						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCAATCCTCCGCCTGAGTCCT	0.602000													28	108					0	0	1	0	0
AQP5	362	broad.mit.edu	37	12	50358842	50358842	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr12:50358842C>T	ENST00000293599.6	+	4	828	c.680C>T	c.(679-681)cCc>cTc	p.P227L		NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	227					carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity			large_intestine(1)|lung(3)	4						CTGCTCTTCCCCAACTCCCTG	0.607000													19	28					0	0	1	0	0
POLR1D	51082	broad.mit.edu	37	13	28197127	28197127	+	Missense_Mutation	SNP	G	G	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr13:28197127G>T	ENST00000302979.3	+	3	1164	c.142G>T	c.(142-144)Gac>Tac	p.D48Y	POLR1D_ENST00000399697.3_Intron|POLR1D_ENST00000465887.1_Intron|POLR1D_ENST00000399696.1_Missense_Mutation_p.D48Y	NM_015972.3	NP_057056.1	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D, 16kDa	48					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		GCACGAGGAAGACCATACCCT	0.463000													11	51					2.80697e-09	2.92796e-09	1	1	0
CWH43	80157	broad.mit.edu	37	4	48993959	48993959	+	Silent	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr4:48993959C>T	ENST00000226432.4	+	4	546	c.363C>T	c.(361-363)ctC>ctT	p.L121L	CWH43_ENST00000513409.1_Silent_p.L94L	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	121					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ACAGGTACCTCAGAATTTGGG	0.343000													13	53					0	0	1	0	0
HSD11B2	3291	broad.mit.edu	37	16	67469741	67469741	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr16:67469741C>T	ENST00000326152.5	+	2	608	c.476C>T	c.(475-477)aCc>aTc	p.T159I	HSD11B2_ENST00000567684.2_3'UTR	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	159					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	ACCACCAGCACCGGTCAGTGG	0.622000													15	12					0	0	1	0	0
LRRC17	10234	broad.mit.edu	37	7	102585002	102585002	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr7:102585002A>G	ENST00000339431.4	+	4	1569	c.1274A>G	c.(1273-1275)cAt>cGt	p.H425R	FBXL13_ENST00000436908.1_Intron|LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379306.3_Intron|LRRC17_ENST00000485478.1_3'UTR	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	425					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						GAAAAAAAACATAGAGATCAC	0.333000													22	36					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13606163	13606163	+	Silent	SNP	G	G	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr4:13606163G>C	ENST00000040738.5	-	10	2496	c.2361C>G	c.(2359-2361)acC>acG	p.T787T		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	787	Lys-rich.						DNA binding										TTTTTCGTTCGGTTTTATCAT	0.323000													7	12					0	0	1	0	0
C11orf74	119710	broad.mit.edu	37	11	36654959	36654959	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr11:36654959C>T	ENST00000446510.2	+	3	361	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C	C11orf74_ENST00000534635.1_Intron|C11orf74_ENST00000334307.5_Missense_Mutation_p.R88C|C11orf74_ENST00000347206.4_Intron			Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	88										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				CATCTTTCTTCGTACTTCATC	0.308000													5	16					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815770	23815770	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr4:23815770G>A	ENST00000264867.2	-	8	1455	c.1336C>T	c.(1336-1338)Cct>Tct	p.P446S	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	446					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	p.P446S(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GTGCTGCAAGGAGAGACCTGC	0.502000													7	28					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71130456	71130456	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr7:71130456C>T	ENST00000333538.5	+	7	1775	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	381	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCACATTGAGCGGAAGAAGAA	0.488000													22	36					0	0	1	0	0
RHOXF1	158800	broad.mit.edu	37	X	119249495	119249495	+	Missense_Mutation	SNP	A	A	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chrX:119249495A>T	ENST00000217999.2	-	1	352	c.278T>A	c.(277-279)aTg>aAg	p.M93K	RP4-755D9.1_ENST00000553843.1_RNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	93					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						CGGACCCTCCATGGCCGCCTG	0.667000													23	47					0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18870855	18870855	+	Missense_Mutation	SNP	C	C	G			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr19:18870855C>G	ENST00000338797.6	+	9	776	c.751C>G	c.(751-753)Ctg>Gtg	p.L251V	CRTC1_ENST00000594658.1_Missense_Mutation_p.L194V|CRTC1_ENST00000321949.8_Missense_Mutation_p.L235V|CRTC1_ENST00000601916.1_Missense_Mutation_p.L160V	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	235					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CACTACAGCCCTGATCCCCGC	0.687000													28	42					0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48718817	48718817	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr3:48718817C>T	ENST00000294129.2	-	5	1114	c.995G>A	c.(994-996)cGg>cAg	p.R332Q	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.R325Q|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.R332Q	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	332					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GATGGCCACCCGGCATAATTC	0.632000													4	33					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51237649	51237649	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr14:51237649C>T	ENST00000245441.5	-	11	1370	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	NIN_ENST00000324330.9_Missense_Mutation_p.E394K|NIN_ENST00000389868.3_Missense_Mutation_p.E394K|NIN_ENST00000530997.2_Missense_Mutation_p.E394K|NIN_ENST00000382041.3_Missense_Mutation_p.E394K|NIN_ENST00000382043.4_Missense_Mutation_p.E394K|NIN_ENST00000453196.1_Missense_Mutation_p.E394K	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	394					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTGAGCTTCTCGGCCTTGTCC	0.512000			T	PDGFRB	MPD								14	16					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9251330	9251330	+	Nonsense_Mutation	SNP	G	G	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr12:9251330G>C	ENST00000318602.7	-	15	2031	c.1724C>G	c.(1723-1725)tCa>tGa	p.S575*		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	575					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GAGACTTTGTGATGGGCTGAA	0.532000													4	9					0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22176590	22176590	+	Silent	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr7:22176590C>T	ENST00000344041.6	-	22	2142	c.1830G>A	c.(1828-1830)ggG>ggA	p.G610G	RAPGEF5_ENST00000401957.2_Silent_p.G460G	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	460					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCTTAAACTTCCCAGGGATTT	0.338000													4	10					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; 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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			33	13					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33521152	33521152	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr17:33521152G>A	ENST00000297307.5	-	1	260	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	59	DUF6 1.					integral to membrane											TAAGCCATACGAGAAAGGGGG	0.647000													26	42					0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100202940	100202940	+	Nonsense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr10:100202940G>A	ENST00000325103.6	-	3	291	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Nonsense_Mutation_p.Q20*|HPS1_ENST00000338546.5_Nonsense_Mutation_p.Q20*	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	20					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TCAAACTCCTGATCTGTCCAG	0.572000									Hermansky-Pudlak syndrome				14	34					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5457558	5457558	+	Missense_Mutation	SNP	C	C	G			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr5:5457558C>G	ENST00000296564.7	+	12	1027	c.805C>G	c.(805-807)Ctg>Gtg	p.L269V		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	269										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCTCACAAAACTGTCCATGGA	0.463000													7	28					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73461910	73461910	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr10:73461910G>A	ENST00000224721.6	+	22	2549	c.2544G>A	c.(2542-2544)gaG>gaA	p.E848E	CDH23_ENST00000299366.7_Silent_p.E888E	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	843	Cadherin 8.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGACCGGGAGAACCCCGACC	0.617000													15	69					0	0	1	0	0
MZT1	440145	broad.mit.edu	37	13	73284477	73284477	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr13:73284477C>T	ENST00000377818.3	-	3	316	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K		NM_001071775.2	NP_001065243.1	Q08AG7	MZT1_HUMAN	mitotic spindle organizing protein 1	78					gamma-tubulin complex localization	centrosome|gamma-tubulin ring complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						GTCATATTTTCAGCAGCCTAG	0.348000													18	35					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138936771	138936771	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr7:138936771G>A	ENST00000473989.3	+	3	631	c.631G>A	c.(631-633)Gag>Aag	p.E211K	UBN2_ENST00000288561.8_Missense_Mutation_p.E128K	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TGGCTATGATGAGACAGATCC	0.383000													20	39					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185976297	185976297	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:185976297G>C	ENST00000271588.4	+	30	4742	c.4513G>C	c.(4513-4515)Gac>Cac	p.D1505H	HMCN1_ENST00000367492.2_Missense_Mutation_p.D1505H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1505	Ig-like C2-type 12.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGAACTTCTAGACAGAGGACA	0.368000													13	64					0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84778493	84778493	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr16:84778493G>C	ENST00000219473.7	+	4	519	c.406G>C	c.(406-408)Gaa>Caa	p.E136Q	USP10_ENST00000570191.1_Missense_Mutation_p.E140Q|USP10_ENST00000562743.1_3'UTR	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	136					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GGAAGTTTTGGAAAATGATGG	0.478000													12	37					0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158715120	158715120	+	Silent	SNP	C	C	G			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr7:158715120C>G	ENST00000407559.3	+	16	2132	c.1974C>G	c.(1972-1974)gtC>gtG	p.V658V		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	658										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AGATGGTGGTCTCCGTTCACG	0.507000													4	33					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr19:40580552T>G	ENST00000450241.2	-	6	2006	c.1695A>C	c.(1693-1695)caA>caC	p.Q565H	ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H			O75290	Z780A_HUMAN	zinc finger protein 780A	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403000													6	747					0	0	1	0	0
DCP2	167227	broad.mit.edu	37	5	112339691	112339691	+	Missense_Mutation	SNP	G	G	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr5:112339691G>T	ENST00000389063.2	+	8	1057	c.859G>T	c.(859-861)Gac>Tac	p.D287Y	DCP2_ENST00000543319.1_Missense_Mutation_p.D76Y|DCP2_ENST00000515408.1_Missense_Mutation_p.D287Y	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	287					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TTCTCCTGGTGACCAGTGGGT	0.383000													32	19					1.7881e-09	1.88961e-09	1	1	0
DPYSL5	56896	broad.mit.edu	37	2	27147872	27147872	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr2:27147872G>A	ENST00000288699.6	+	3	537	c.379G>A	c.(379-381)Gat>Aat	p.D127N	DPYSL5_ENST00000401478.1_Missense_Mutation_p.D127N	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	127					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCTGCTGTGATTACGCCCT	0.602000													4	13					0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77509894	77509894	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:77509894G>A	ENST00000477717.1	+	3	502	c.267G>A	c.(265-267)ctG>ctA	p.L89L		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	89					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TCCAGCCCCTGAAAATGCACT	0.592000													9	12					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	10051312	10051312	+	Splice_Site	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr11:10051312C>T	ENST00000256190.8	-	5	650	c.513G>A	c.(511-513)caG>caA	p.Q171Q	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	171	DENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTCTATTTACCTGAGACCCTC	0.423000													26	135					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			18	34					0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136872782	136872782	+	Missense_Mutation	SNP	T	T	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr2:136872782T>C	ENST00000409817.1	-	1	1031	c.728A>G	c.(727-729)aAg>aGg	p.K243R	CXCR4_ENST00000241393.3_Missense_Mutation_p.K239R|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	239				VIL -> IIP (in Ref. 12; AAK29630).	activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	GACTGTGGTCTTGAGGGCCTT	0.512000													14	40					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63138689	63138689	+	Missense_Mutation	SNP	T	T	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr11:63138689T>C	ENST00000279178.3	+	2	734	c.485T>C	c.(484-486)cTa>cCa	p.L162P	SLC22A9_ENST00000310969.4_Missense_Mutation_p.L162P	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	162					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GGAGGCATCCTAGGCGGTCAT	0.413000													11	21					0	0	1	0	0
IFITM3	10410	broad.mit.edu	37	11	320649	320649	+	Silent	SNP	G	G	A	rs11553885	by1000genomes	TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr11:320649G>A	ENST00000399808.4	-	1	401	c.165C>T	c.(163-165)ccC>ccT	p.P55P	IFITM3_ENST00000602735.1_Silent_p.P34P|IFITM3_ENST00000526811.1_Silent_p.P34P|RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.11_ENST00000602756.1_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	55					response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		p.P55P(5)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGACATGGTCGGGCACGGAGG	0.637000													4	63					0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38714394	38714394	+	Silent	SNP	T	T	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr12:38714394T>C	ENST00000308742.4	+	3	1117	c.801T>C	c.(799-801)ttT>ttC	p.F267F	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	267					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTTGTGCTTTTGTAGTAGTTA	0.358000													51	84					0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73914282	73914282	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr17:73914282C>T	ENST00000586717.1	-	20	2438	c.2165G>A	c.(2164-2166)cGa>cAa	p.R722Q	FBF1_ENST00000389570.4_Missense_Mutation_p.R722Q|FBF1_ENST00000319129.5_Missense_Mutation_p.R721Q			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	721										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						ATCGACCTCTCGGTCCTTCAG	0.677000													7	21					0	0	1	0	0
RNASET2	8635	broad.mit.edu	37	6	167356544	167356544	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr6:167356544C>T	ENST00000366855.6	-	6	856	c.181G>A	c.(181-183)Gac>Aac	p.D61N	RP11-514O12.4_ENST00000507747.1_Silent_p.L79L|RNASET2_ENST00000476238.2_Missense_Mutation_p.D99N|RNASET2_ENST00000496851.2_5'UTR|RNASET2_ENST00000508775.1_Missense_Mutation_p.D99N			O00584	RNT2_HUMAN	ribonuclease T2	99					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		TGAATTACGTCAGGCCAGTAT	0.438000													3	13					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122054129	122054129	+	Splice_Site	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr7:122054129C>T	ENST00000449022.2	-	19	2601	c.2582G>A	c.(2581-2583)gGa>gAa	p.G861E	RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|RP5-1101C3.1_ENST00000593910.1_RNA	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	861	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CACCTCTCTTCCCTGAGGGTT	0.313000													28	54					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279833	46279833	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr20:46279833G>A	ENST00000372004.3	+	20	3963	c.3747G>A	c.(3745-3747)caG>caA	p.Q1249Q	NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547000													4	73					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37667825	37667825	+	Missense_Mutation	SNP	C	C	G			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr17:37667825C>G	ENST00000447079.4	+	8	2743	c.2710C>G	c.(2710-2712)Cca>Gca	p.P904A	CDK12_ENST00000430627.2_Missense_Mutation_p.P904A	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	904	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GTACCGACCTCCAGAACTACT	0.383000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			20	43					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113772916	113772916	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr13:113772916C>T	ENST00000375581.3	+	9	1030	c.995C>T	c.(994-996)aCg>aTg	p.T332M	F7_ENST00000346342.3_Missense_Mutation_p.T310M|F7_ENST00000541084.1_Missense_Mutation_p.T263M	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	332	Peptidase S1.		T -> M (in FA7D).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	TCTGAGAGGACGCTGGCCTTC	0.677000													5	20					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167020554	167020554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr4:167020554C>T	ENST00000061240.2	+	20	3429	c.2782C>T	c.(2782-2784)Cga>Tga	p.R928*	TLL1_ENST00000507499.1_Nonsense_Mutation_p.R951*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	928	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ACGGGGCTCTCGACTTGAATT	0.448000													10	100					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47682487	47682487	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr16:47682487G>A	ENST00000455779.1	+	18	1816	c.1631G>A	c.(1630-1632)gGa>gAa	p.G544E	PHKB_ENST00000566044.1_Missense_Mutation_p.G544E|PHKB_ENST00000299167.8_Missense_Mutation_p.G551E|PHKB_ENST00000323584.5_Missense_Mutation_p.G551E			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	551					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GGACTCTCTGGAAGGCCAGAC	0.423000													39	58					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39909220	39909220	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:39909220G>A	ENST00000564288.1	+	79	20182	c.19405G>A	c.(19405-19407)Gct>Act	p.A6469T	MACF1_ENST00000317713.7_Missense_Mutation_p.A4410T|MACF1_ENST00000545844.1_Missense_Mutation_p.A4410T|MACF1_ENST00000361689.2_Missense_Mutation_p.A4410T|MACF1_ENST00000539005.1_Missense_Mutation_p.A4280T|MACF1_ENST00000567887.1_Missense_Mutation_p.A6506T|MACF1_ENST00000289893.4_Missense_Mutation_p.A4912T|MACF1_ENST00000372915.3_Missense_Mutation_p.A6368T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6478					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCTGAAACTGCTAGGGAACA	0.418000													30	49					0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71154737	71154737	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr10:71154737G>A	ENST00000448642.2	+	21	2745	c.2356G>A	c.(2356-2358)Ggt>Agt	p.G786S	HK1_ENST00000360289.2_Missense_Mutation_p.G739S|HK1_ENST00000359426.6_Missense_Mutation_p.G751S|HK1_ENST00000404387.2_Missense_Mutation_p.G755S|HK1_ENST00000298649.3_Missense_Mutation_p.G750S			P19367	HXK1_HUMAN	hexokinase 1	751	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TATGTACCTGGGTGAAATCGT	0.542000													18	10					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42524081	42524081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr13:42524081G>A	ENST00000379310.3	-	2	300	c.232C>T	c.(232-234)Cag>Tag	p.Q78*	VWA8_ENST00000281496.6_Nonsense_Mutation_p.Q78*	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CTGTAGTTCTGTGGCACAAGT	0.249000													6	9					0	0	1	0	0
BFAR	51283	broad.mit.edu	37	16	14742410	14742410	+	Silent	SNP	A	A	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr16:14742410A>T	ENST00000261658.2	+	3	706	c.429A>T	c.(427-429)ggA>ggT	p.G143G	BFAR_ENST00000426842.2_Intron|BFAR_ENST00000563971.1_Intron	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	143					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						TGGGAGGGGGATTCTTTTCCG	0.512000													35	137					0	0	1	0	0
ITPK1	3705	broad.mit.edu	37	14	93412807	93412807	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr14:93412807G>C	ENST00000267615.6	-	10	943	c.770C>G	c.(769-771)cCg>cGg	p.P257R	ITPK1_ENST00000556603.2_Missense_Mutation_p.P257R|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000555495.1_Missense_Mutation_p.P138R|ITPK1_ENST00000354313.3_Missense_Mutation_p.P257R			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	257	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CTCGTCGCTCGGCCGCTCGAA	0.627000													9	14					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51238066	51238066	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr14:51238066C>T	ENST00000245441.5	-	10	1292	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	NIN_ENST00000324330.9_Missense_Mutation_p.E368K|NIN_ENST00000389868.3_Missense_Mutation_p.E368K|NIN_ENST00000530997.2_Missense_Mutation_p.E368K|NIN_ENST00000382041.3_Missense_Mutation_p.E368K|NIN_ENST00000382043.4_Missense_Mutation_p.E368K|NIN_ENST00000453196.1_Missense_Mutation_p.E368K	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	368					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGCCGGATTTCAGCCTTAAAG	0.473000			T	PDGFRB	MPD								12	7					0	0	1	0	0
MIR200B	406984	broad.mit.edu	37	1	1102490	1102490	+	RNA	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:1102490C>T	ENST00000384997.1	+	0	7					NR_029639.1																						GGACCCAGCTCGGGCAGCCGT	0.662000													4	3					0	0	1	0	0
WSB2	55884	broad.mit.edu	37	12	118480755	118480755	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr12:118480755G>A	ENST00000315436.3	-	4	591	c.450C>T	c.(448-450)tcC>tcT	p.S150S	WSB2_ENST00000441406.2_Silent_p.S167S|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000535496.1_Silent_p.S152S|WSB2_ENST00000536738.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	150					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTGGTGGCCGGAAAGATTCA	0.592000													3	44					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577537	7577537	+	Silent	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr17:7577537C>T	ENST00000420246.2	-	7	876	c.744G>A	c.(742-744)cgG>cgA	p.R248R	TP53_ENST00000359597.4_Silent_p.R248R|TP53_ENST00000455263.2_Silent_p.R248R|TP53_ENST00000413465.2_Silent_p.R248R|TP53_ENST00000445888.2_Silent_p.R248R|TP53_ENST00000269305.4_Silent_p.R248R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; 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.R248R(8)|p.?(5)|p.R248Q(5)|p.N247_R248delNR(2)|p.M246_P250delMNRRP(2)|p.R248L(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R248C(1)|p.R249fs*14(1)|p.R249fs*15(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GGATGGGCCTCCGGTTCATGC	0.572000		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)			32	13					0	0	1	0	0
EXOSC1	51013	broad.mit.edu	37	10	99205531	99205531	+	Silent	SNP	C	C	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr10:99205531C>A	ENST00000370902.3	-	2	136	c.105G>T	c.(103-105)tcG>tcT	p.S35S	EXOSC1_ENST00000471049.1_5'UTR|EXOSC1_ENST00000485122.2_Silent_p.S35S|EXOSC1_ENST00000370885.4_Silent_p.S35S|EXOSC1_ENST00000370886.5_Silent_p.S35S	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1	35					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding			breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		CGGCAAGCGACGAAAAGATGT	0.582000											OREG0020413	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	19					0.000157383	0.000160028	1	1	0
ZNF81	347344	broad.mit.edu	37	X	47774800	47774800	+	Missense_Mutation	SNP	G	G	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chrX:47774800G>T	ENST00000376954.1	+	6	1123	c.755G>T	c.(754-756)gGa>gTa	p.G252V	ZNF81_ENST00000338637.7_Missense_Mutation_p.G252V			P51508	ZNF81_HUMAN	zinc finger protein 81	252						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AATCAATGTGGAAAAGTCCTC	0.398000													13	38					0.00136819	0.0013796	1	1	0
FAM3C	10447	broad.mit.edu	37	7	121000143	121000143	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr7:121000143C>T	ENST00000359943.3	-	8	634	c.421G>A	c.(421-423)Gat>Aat	p.D141N		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	141					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					ATTGTTCCATCTTGTATGGCC	0.323000													23	40					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81596491	81596491	+	Missense_Mutation	SNP	G	G	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr7:81596491G>T	ENST00000356860.3	-	31	2834	c.2496C>A	c.(2494-2496)aaC>aaA	p.N832K	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.N44K|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.N844K	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	844						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTACGTCACTGTTTCTTTTGC	0.303000													24	41					4.7796e-09	4.96422e-09	1	1	0
ITGB6	3694	broad.mit.edu	37	2	160998508	160998508	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr2:160998508G>A	ENST00000283249.2	-	8	1329	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Silent_p.I364I|ITGB6_ENST00000428609.2_Silent_p.I322I|ITGB6_ENST00000409967.2_Silent_p.I364I	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	364	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AAGCTGAGATGATCAGCTGGA	0.358000													25	39					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107834532	107834532	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr7:107834532C>T	ENST00000379028.3	-	17	2184	c.1714G>A	c.(1714-1716)Gat>Aat	p.D572N	NRCAM_ENST00000425651.2_Missense_Mutation_p.D572N|NRCAM_ENST00000379024.4_Missense_Mutation_p.D553N|NRCAM_ENST00000351718.4_Missense_Mutation_p.D566N|NRCAM_ENST00000413765.2_Missense_Mutation_p.D553N|NRCAM_ENST00000379022.4_Missense_Mutation_p.D572N			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	572	Ig-like 6.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AAGGTGTGATCATGTTTCACT	0.433000													15	71					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47681679	47681679	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr6:47681679A>G	ENST00000283303.2	+	6	956	c.698A>G	c.(697-699)aAc>aGc	p.N233S	GPR115_ENST00000371220.1_Missense_Mutation_p.N290S|GPR115_ENST00000327753.3_Missense_Mutation_p.N233S	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	233					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AATTCTGAGAACATTGTGAAT	0.398000													26	66					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207653398	207653398	+	Splice_Site	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:207653398G>A	ENST00000367057.3	+	18	3377	c.3188G>A	c.(3187-3189)cGc>cAc	p.R1063H	CR2_ENST00000458541.2_Splice_Site_p.R977H|CR2_ENST00000367059.3_Splice_Site_p.R942H|CR2_ENST00000367058.3_Splice_Site_p.R1004H	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	1004					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CACAGAGCACGGTAAGTTCAA	0.373000													15	78					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148004752	148004752	+	Silent	SNP	G	G	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:148004752G>C	ENST00000369219.1	-	22	2578	c.2562C>G	c.(2560-2562)gtC>gtG	p.V854V				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	854	NBPF 10.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AGTCCTGCAAGACTTCAGGCT	0.463000													86	206					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731484	21731484	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr17:21731484G>A	ENST00000578713.1	+	2	563	c.559G>A	c.(559-561)Ggc>Agc	p.G187S	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGATGAAGAAGGCATCCCCCC	0.527000													14	22					0	0	1	0	0
PHF21A	51317	broad.mit.edu	37	11	46105755	46105755	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr11:46105755G>C	ENST00000257821.4	-	3	639	c.16C>G	c.(16-18)Cta>Gta	p.L6V	PHF21A_ENST00000418153.2_Missense_Mutation_p.L6V|PHF21A_ENST00000323180.6_Missense_Mutation_p.L6V	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	6	Gln-rich.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GCCTCCTGTAGAGTCTGCAAC	0.403000													8	23					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61562333	61562333	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr17:61562333G>A	ENST00000577647.1	+	1	150	c.105G>A	c.(103-105)gtG>gtA	p.V35V	ACE_ENST00000413513.3_Silent_p.V35V|ACE_ENST00000428043.1_Intron|ACE_ENST00000490216.2_Silent_p.V35V|ACE_ENST00000290863.6_Silent_p.V35V|ACE_ENST00000290866.4_Intron|ACE_ENST00000421982.2_Intron			P12821	ACE_HUMAN	angiotensin I converting enzyme	0	Peptidase M2 1.			Q -> E (in Ref. 7; AA sequence).	arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCCAACAGGTGACAGTCACCC	0.642000													9	8					0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16358235	16358235	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:16358235G>A	ENST00000375692.1	+	17	1781	c.1653G>A	c.(1651-1653)atG>atA	p.M551I	CLCNKA_ENST00000439316.2_Missense_Mutation_p.M508I|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.M551I|CLCNKA_ENST00000420078.1_Missense_Mutation_p.M551I			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	551	CBS 1.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	AGCACTTCATGAACCACAGCA	0.622000													19	25					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2813284	2813284	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr8:2813284G>C	ENST00000520002.1	-	65	10379	c.9824C>G	c.(9823-9825)gCc>gGc	p.A3275G	CSMD1_ENST00000537824.1_Missense_Mutation_p.A3274G|CSMD1_ENST00000542608.1_Missense_Mutation_p.A3097G|CSMD1_ENST00000400186.3_Missense_Mutation_p.A3098G|CSMD1_ENST00000602723.1_Missense_Mutation_p.A3098G|CSMD1_ENST00000602557.1_Missense_Mutation_p.A3275G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3275	Sushi 28.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGTCTGCAGGCATGAGCTGA	0.428000													3	49					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70549864	70549864	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr13:70549864G>C	ENST00000377844.4	-	2	1327	c.568C>G	c.(568-570)Caa>Gaa	p.Q190E	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	190					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGAACAGCTTGATAGAATTCT	0.423000													30	63					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214794778	214794778	+	Missense_Mutation	SNP	C	C	T	rs142357329	byFrequency	TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr2:214794778C>T	ENST00000331683.5	+	12	1404	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	SPAG16_ENST00000374309.3_Missense_Mutation_p.R343C	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	437					cilium assembly	cilium axoneme|flagellar axoneme		p.R437C(2)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGGACACAGCCGCGCAGTGTG	0.438000													14	48					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1843040	1843040	+	Translation_Start_Site	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr2:1843040G>A	ENST00000407844.1	-	0	304				MYT1L_ENST00000428368.2_Silent_p.D985D|MYT1L_ENST00000399161.2_Silent_p.D987D|MYT1L_ENST00000471668.1_5'UTR			Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like						cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCAGGTACCCGTCTTTCTGCC	0.672000													5	37					0	0	1	0	0
BRAP	8315	broad.mit.edu	37	12	112082201	112082201	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr12:112082201G>A	ENST00000419234.4	-	12	1774	c.1581C>T	c.(1579-1581)acC>acT	p.T527T	BRAP_ENST00000327551.6_Silent_p.T497T|BRAP_ENST00000539060.1_Silent_p.T348T	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	527					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						CCTGGATCTCGGTGATCTGCA	0.542000													24	35					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93779019	93779019	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr11:93779019G>C	ENST00000315765.9	+	2	359	c.351G>C	c.(349-351)aaG>aaC	p.K117N		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	117	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTCATTTAAAGAACTTTGCTT	0.453000													6	30					0	0	1	0	0
STK17B	9262	broad.mit.edu	37	2	197002358	197002358	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr2:197002358G>A	ENST00000263955.4	-	8	1218	c.932C>T	c.(931-933)tCt>tTt	p.S311F	STK17B_ENST00000409228.1_Missense_Mutation_p.S311F	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	311	Poly-Ser.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			CTGAGTTTGAGAGGAACTGGA	0.423000													29	27					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123686823	123686823	+	Missense_Mutation	SNP	C	C	G			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr12:123686823C>G	ENST00000606320.1	-	11	2031	c.1825G>C	c.(1825-1827)Gat>Cat	p.D609H	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.D579H|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.D457H|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.D457H			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	457					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GCTCGAAGATCTGCTATGTGT	0.353000													21	81					0	0	1	0	0
COLGALT1	79709	broad.mit.edu	37	19	17692149	17692149	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr19:17692149G>A	ENST00000252599.4	+	12	1885	c.1765G>A	c.(1765-1767)Gcc>Acc	p.A589T		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		CTGGGACCGCGCCAAGTCCCA	0.592000													3	36					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81112654	81112654	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr12:81112654A>G	ENST00000228644.3	+	3	744	c.592A>G	c.(592-594)Aaa>Gaa	p.K198E		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	198					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TGCCACAGATAAAAACTCCTT	0.423000													13	22					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33704024	33704024	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr13:33704024C>T	ENST00000336934.5	-	5	906	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	STARD13_ENST00000255486.4_Missense_Mutation_p.E256K|STARD13_ENST00000399365.3_Missense_Mutation_p.E146K	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	264					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CGGAGTGTTTCCATGCGTTTC	0.607000													19	37					0	0	1	0	0
HYAL3	8372	broad.mit.edu	37	3	50332478	50332478	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr3:50332478G>A	ENST00000336307.1	-	2	828	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	HYAL3_ENST00000450982.1_Missense_Mutation_p.R186W|HYAL3_ENST00000359051.3_Missense_Mutation_p.R186W|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000513170.1_Intron	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	186					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGGCCACCCGCAGCGTATCC	0.607000													10	15					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61622589	61622589	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr17:61622589G>A	ENST00000583023.1	+	13	2666	c.2655G>A	c.(2653-2655)ggG>ggA	p.G885G	KCNH6_ENST00000581784.1_Silent_p.G796G|KCNH6_ENST00000456941.2_Silent_p.G796G|KCNH6_ENST00000314672.5_Silent_p.G849G	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	885					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CGAGTCCAGGGCCCAGGCTGC	0.632000													8	37					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48311668	48311668	+	Nonsense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr7:48311668G>A	ENST00000435803.1	+	17	2429	c.2405G>A	c.(2404-2406)tGg>tAg	p.W802*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	802					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAAGTGATTTGGAAAATGCAG	0.338000													4	19					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31682996	31682996	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr7:31682996C>T	ENST00000319386.3	+	11	2561	c.1568C>T	c.(1567-1569)cCt>cTt	p.P523L	CCDC129_ENST00000407970.3_Missense_Mutation_p.P671L|CCDC129_ENST00000409210.1_Missense_Mutation_p.P579L|CCDC129_ENST00000451887.2_Missense_Mutation_p.P697L			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	671										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CATAAACTGCCTGGAGATCCT	0.483000													11	23					0	0	1	0	0
RAP2C	57826	broad.mit.edu	37	X	131351026	131351026	+	Nonsense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chrX:131351026G>A	ENST00000342983.2	-	2	1017	c.271C>T	c.(271-273)Cag>Tag	p.Q91*	RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Nonsense_Mutation_p.Q91*	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	91					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					TTGGTTACCTGAAAAGACTGT	0.453000													4	118					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11049547	11049547	+	RNA	SNP	C	C	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr21:11049547C>A	ENST00000470054.1	-	0	561									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAGTGCTGACCACAAGTAGTA	0.448000													8	123					2.32078e-09	2.4313e-09	1	1	0
PRMT7	54496	broad.mit.edu	37	16	68363001	68363001	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr16:68363001G>A	ENST00000339507.5	+	6	1145	c.315G>A	c.(313-315)aaG>aaA	p.K105K	PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000441236.1_Silent_p.K55K|PRMT7_ENST00000449359.3_Silent_p.K55K|PRMT7_ENST00000348497.4_Intron			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	105					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CTGCTGTGAAGATTGTGGAGA	0.408000											OREG0023899	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	29					0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35850452	35850452	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr19:35850452G>A	ENST00000327809.4	+	2	861	c.660G>A	c.(658-660)caG>caA	p.Q220Q	FFAR3_ENST00000594310.1_Silent_p.Q220Q	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	220						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			ACCGCCGGCAGAGGAGGGTGG	0.622000													30	68					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3328631	3328631	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:3328631G>A	ENST00000378398.3	+	10	1955	c.1873G>A	c.(1873-1875)Gac>Aac	p.D625N	PRDM16_ENST00000514189.1_Missense_Mutation_p.D625N|PRDM16_ENST00000441472.2_Missense_Mutation_p.D624N|PRDM16_ENST00000270722.5_Missense_Mutation_p.D624N|PRDM16_ENST00000378391.2_Missense_Mutation_p.D624N|PRDM16_ENST00000442529.2_Missense_Mutation_p.D624N|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Missense_Mutation_p.D625N			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	624					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.D624Y(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GACGGGCTCGGACCTGGACAG	0.677000			T	EVI1	"""MDS, AML"""								33	50					0	0	1	0	0
AUP1	550	broad.mit.edu	37	2	74755967	74755967	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr2:74755967G>A	ENST00000377526.3	-	4	744	c.435C>T	c.(433-435)ttC>ttT	p.F145F		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	211						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						TGGAAGCACAGAATCTCTTGA	0.602000													23	54					0	0	1	0	0
IGLV10-54	28772	broad.mit.edu	37	22	22569533	22569533	+	RNA	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr22:22569533C>T	ENST00000390287.2	+	0	238																											ACAACCGGCCCTCAGGGATCT	0.552000													14	19					0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123187285	123187285	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr12:123187285G>A	ENST00000328880.5	-	1	605	c.546C>T	c.(544-546)atC>atT	p.I182I	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	182					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	AGGTATGGCAGATGCTGAAGC	0.547000													22	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179606616	179606616	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr2:179606616C>T	ENST00000589042.1	-	48	11568	c.11344G>A	c.(11344-11346)Gaa>Aaa	p.E3782K	TTN_ENST00000342175.6_Missense_Mutation_p.E3611K|TTN_ENST00000591111.1_Missense_Mutation_p.E3465K|TTN_ENST00000460472.2_Missense_Mutation_p.E3419K|TTN_ENST00000359218.5_Missense_Mutation_p.E3544K|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3465							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAAGTCCTTCTTCCTCGGCA	0.289000													3	2					0	0	1	0	0
NANOS3	342977	broad.mit.edu	37	19	13988426	13988426	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr19:13988426G>A	ENST00000397555.2	+	2	307	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	NANOS3_ENST00000339133.5_Missense_Mutation_p.A122T|NANOS3_ENST00000591727.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	103					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ACGTGAGCGCGCCCACACCCG	0.652000													4	11					0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123484252	123484252	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr11:123484252C>T	ENST00000529750.1	+	15	2011	c.1684C>T	c.(1684-1686)Cgg>Tgg	p.R562W	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.R569W|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.R562W|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.R253W	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	562						integral to membrane		p.R562W(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TACAACGGTGCGGAGGAGGAA	0.577000													3	15					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	608811	608811	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr11:608811C>T	ENST00000264555.5	+	14	3483	c.3355C>T	c.(3355-3357)Cgg>Tgg	p.R1119W	PHRF1_ENST00000533464.1_Missense_Mutation_p.R1115W|PHRF1_ENST00000413872.2_Missense_Mutation_p.R1117W|PHRF1_ENST00000416188.2_Missense_Mutation_p.R1118W	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1119	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GTCCAGACCTCGGGGAAGGGA	0.627000													5	10					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380454	147380454	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:147380454G>A	ENST00000240986.4	+	2	425	c.372G>A	c.(370-372)ccG>ccA	p.P124P	GJA8_ENST00000369235.1_Silent_p.P124P	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	124					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.P124P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					ACGGCGGCCCGGACCAGGGCA	0.642000													15	51					0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55337047	55337047	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:55337047C>T	ENST00000371269.3	-	5	950	c.852G>A	c.(850-852)atG>atA	p.M284I	DHCR24_ENST00000537443.1_Missense_Mutation_p.M116I|DHCR24_ENST00000535035.1_Missense_Mutation_p.M243I	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	284					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CCTCATCTGTCATGACCCCTG	0.582000													7	14					0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34976185	34976185	+	Missense_Mutation	SNP	T	T	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr9:34976185T>C	ENST00000242315.3	+	4	683	c.601T>C	c.(601-603)Tat>Cat	p.Y201H	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.Y201H	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	201							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GGAGGAAATGTATAGCCTCAC	0.532000													25	27					0	0	1	0	0
DNAJB11	51726	broad.mit.edu	37	3	186302326	186302326	+	Silent	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr3:186302326C>T	ENST00000439351.1	+	10	1889	c.960C>T	c.(958-960)atC>atT	p.I320I	DNAJB11_ENST00000265028.3_Silent_p.I320I			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	320					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CTTTGATAATCACTTTTGATG	0.443000													9	63					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195479244	195479244	+	Splice_Site	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr3:195479244C>T	ENST00000463781.3	-	21	16041	c.15582G>A	c.(15580-15582)tcG>tcA	p.S5194S	MUC4_ENST00000349607.4_Splice_Site_p.S907S|MUC4_ENST00000346145.4_Splice_Site_p.S958S|MUC4_ENST00000475231.1_Splice_Site_p.S5142S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1951					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CAGCACTGACCGAGGCGTTGA	0.577000													8	54					0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150403766	150403766	+	Missense_Mutation	SNP	A	A	G			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr3:150403766A>G	ENST00000295910.6	-	5	705	c.653T>C	c.(652-654)tTa>tCa	p.L218S	FAM194A_ENST00000491361.1_Missense_Mutation_p.L72S	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	218										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CAGCTCATATAAAATATTTAG	0.333000													82	82					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89339430	89339430	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr8:89339430G>A	ENST00000286614.6	-	1	287	c.6C>T	c.(4-6)atC>atT	p.I2I	MMP16_ENST00000544227.1_5'UTR|RP11-586K2.1_ENST00000523254.1_RNA	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	2					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.I2I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATGTGAGTAAGATCATAGTGA	0.473000													3	35					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234599604	234599604	+	Missense_Mutation	SNP	G	G	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:234599604G>T	ENST00000040877.1	-	6	1377	c.1378C>A	c.(1378-1380)Ctt>Att	p.L460I		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	460					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCTGGAAGAAGAGAAATATAA	0.358000													15	18					4.14922e-12	4.44297e-12	1	1	0
RGS12	6002	broad.mit.edu	37	4	3318549	3318549	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr4:3318549G>A	ENST00000336727.3	+	2	1556	c.652G>A	c.(652-654)Gat>Aat	p.D218N	RGS12_ENST00000543385.1_Missense_Mutation_p.D218N|RGS12_ENST00000382788.3_Missense_Mutation_p.D218N|RGS12_ENST00000344733.5_Missense_Mutation_p.D218N	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	218						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAGTCATGACGATTTTGCATT	0.413000													14	50					0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94366383	94366383	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr10:94366383G>A	ENST00000260731.3	+	3	308	c.218G>A	c.(217-219)gGa>gAa	p.G73E		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	73	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TAGGTGTTTGGAGCATCTACT	0.279000													16	36					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178921339	178921339	+	Missense_Mutation	SNP	G	G	A	rs150606403		TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr3:178921339G>A	ENST00000263967.3	+	5	978	c.821G>A	c.(820-822)aGa>aAa	p.R274K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	274	PI3K-RBD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CAGTATATAAGAAGCTGTATA	0.358000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			27	53					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028497	37028497	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chrX:37028497G>C	ENST00000358047.3	+	1	2066	c.2014G>C	c.(2014-2016)Gag>Cag	p.E672Q		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	672										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCCCCCGAGACTGGAGT	0.642000													33	52					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25436879	25436879	+	Missense_Mutation	SNP	T	T	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr13:25436879T>C	ENST00000255324.5	+	28	3975	c.3923T>C	c.(3922-3924)aTa>aCa	p.I1308T	RNF17_ENST00000339524.3_Missense_Mutation_p.I360T|RNF17_ENST00000381921.1_Missense_Mutation_p.I1308T	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1308					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CCAGATGCAATAGAAGTTCTT	0.308000													44	76					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	RNA	SNP	T	T	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562000													4	101					0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632514	143632514	+	Silent	SNP	C	C	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr7:143632514C>A	ENST00000408955.2	+	1	256	c.189C>A	c.(187-189)ctC>ctA	p.L63L		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ATTTCTTTCTCACCAACCTCT	0.502000													35	197					2.26627e-22	2.52737e-22	1	1	0
TLL1	7092	broad.mit.edu	37	4	166964485	166964485	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr4:166964485G>A	ENST00000061240.2	+	12	2085	c.1438G>A	c.(1438-1440)Gat>Aat	p.D480N	TLL1_ENST00000507499.1_Missense_Mutation_p.D480N	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	480	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CAATTATCCTGATGACTATCG	0.423000													49	63					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563692	55563692	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr11:55563692G>C	ENST00000335605.1	+	1	661	c.661G>C	c.(661-663)Gtt>Ctt	p.V221L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CACTTCCTATGTTTTCATTTT	0.478000													11	155					0	0	1	0	0
CARF	79800	broad.mit.edu	37	2	203836414	203836414	+	Silent	SNP	A	A	G			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr2:203836414A>G	ENST00000402905.3	+	11	1605	c.1284A>G	c.(1282-1284)ttA>ttG	p.L428L	CARF_ENST00000428585.1_Silent_p.L352L|CARF_ENST00000545262.1_Silent_p.L352L|CARF_ENST00000320443.8_Silent_p.L428L|CARF_ENST00000414439.1_Silent_p.L326L|CARF_ENST00000545253.1_Silent_p.L340L|WDR12_ENST00000477723.1_Intron|CARF_ENST00000438828.2_Silent_p.L428L	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1			calcium responsive transcription factor																		TTCAAGAATTAGTATCACAGG	0.363000													9	8					0	0	1	0	0
LCE4A	199834	broad.mit.edu	37	1	152681605	152681605	+	Silent	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:152681605C>T	ENST00000368777.1	+	2	310	c.54C>T	c.(52-54)atC>atT	p.I18I	LCE4A_ENST00000335535.3_Silent_p.I18I			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	18	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			AGTGTCCTATCCCCAAGTATC	0.517000													4	104					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117032873	117032873	+	Nonstop_Mutation	SNP	A	A	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chrX:117032873A>C	ENST00000371876.1	-	6	4234	c.1813T>G	c.(1813-1815)Taa>Gaa	p.*605E	KLHL13_ENST00000371882.1_Nonstop_Mutation_p.*605E|KLHL13_ENST00000540167.1_Nonstop_Mutation_p.*640E|KLHL13_ENST00000469946.1_Nonstop_Mutation_p.*605E|KLHL13_ENST00000262820.3_Nonstop_Mutation_p.*656E|KLHL13_ENST00000539496.1_Nonstop_Mutation_p.*659E|KLHL13_ENST00000371878.1_Nonstop_Mutation_p.*605E|KLHL13_ENST00000545703.1_Nonstop_Mutation_p.*614E|KLHL13_ENST00000541812.1_Nonstop_Mutation_p.*640E			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	0					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGATGATCTTAAGGTGCAGAA	0.418000													3	85					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19296045	19296045	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr9:19296045C>T	ENST00000380432.2	+	2	166	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	DENND4C_ENST00000602925.1_Missense_Mutation_p.R281W|DENND4C_ENST00000434457.2_Missense_Mutation_p.R281W			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	45						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACCTTACTCTCGGGAACTTCT	0.368000													45	84					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784853	9784853	+	Silent	SNP	C	C	T	rs114936842	by1000genomes	TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr4:9784853C>T	ENST00000304374.2	+	1	1596	c.1200C>T	c.(1198-1200)atC>atT	p.I400I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	400					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.I400M(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ACCAAGACATCGTCTTCCACA	0.592000													8	13					0	0	1	0	0
CARS	833	broad.mit.edu	37	11	3059375	3059375	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr11:3059375C>T	ENST00000397114.3	-	7	803	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000401769.3_Missense_Mutation_p.E166K|CARS_ENST00000278224.9_Missense_Mutation_p.E153K|CARS_ENST00000397111.5_Missense_Mutation_p.E153K|CARS_ENST00000380525.4_Missense_Mutation_p.E236K			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	153					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	TGAATCCGTTCGAGCATCTGC	0.478000			T	ALK	ALCL						OREG0020690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	58					0	0	1	0	0
ZMYND10	51364	broad.mit.edu	37	3	50379130	50379130	+	Splice_Site	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr3:50379130C>T	ENST00000231749.3	-	11	2394	c.1122G>A	c.(1120-1122)agG>agA	p.R374R	ZMYND10_ENST00000360165.3_Splice_Site_p.R369R|ZMYND10_ENST00000490675.1_5'UTR|ZMYND10-AS1_ENST00000440013.1_RNA	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	374						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TCTCAGCCCACCTGGGGGAAA	0.627000										TSP Lung(30;0.18)			9	23					0	0	1	0	0
MICU3	286097	broad.mit.edu	37	8	16963070	16963070	+	Missense_Mutation	SNP	C	C	T	rs143132509		TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr8:16963070C>T	ENST00000318063.5	+	11	1276	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3									p.R412C(1)									AGAAAATGTGCGTTACAGTAT	0.318000													7	36					0	0	1	0	0
LHFP	10186	broad.mit.edu	37	13	40175346	40175346	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr13:40175346G>A	ENST00000379589.3	-	2	470	c.8C>T	c.(7-9)tCc>tTc	p.S3F		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	3						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		AGTCAGGCTGGATGCCATCTT	0.507000			T	HMGA2	lipoma								9	11					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	10051313	10051313	+	Splice_Site	SNP	T	T	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr11:10051313T>A	ENST00000256190.8	-	5	649	c.512A>T	c.(511-513)cAg>cTg	p.Q171L	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	171	DENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCTATTTACCTGAGACCCTCC	0.428000													28	135					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78205089	78205089	+	Missense_Mutation	SNP	T	T	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:78205089T>C	ENST00000370793.1	-	6	651	c.305A>G	c.(304-306)tAt>tGt	p.Y102C	USP33_ENST00000370794.3_Missense_Mutation_p.Y71C|USP33_ENST00000357428.1_Missense_Mutation_p.Y102C|USP33_ENST00000370792.3_Missense_Mutation_p.Y102C|USP33_ENST00000528150.1_5'UTR	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	102					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CACAGTTAGATAATGCTTTGT	0.348000													22	34					0	0	1	0	0
EPPIN	57119	broad.mit.edu	37	20	44175955	44175955	+	Silent	SNP	G	G	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr20:44175955G>T	ENST00000354280.4	-	1	108	c.42C>A	c.(40-42)gtC>gtA	p.V14V	EPPIN_ENST00000409554.1_Silent_p.V14V|EPPIN_ENST00000555685.1_Silent_p.V14V|EPPIN-WFDC6_ENST00000504988.1_Silent_p.V14V	NM_020398.3	NP_065131.1			epididymal peptidase inhibitor																		TCGCTAAGAGGACGAATAGCA	0.522000													15	25					1.62849e-17	1.7752e-17	1	1	0
RNF220	55182	broad.mit.edu	37	1	45101777	45101777	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:45101777G>C	ENST00000355387.2	+	8	1519	c.1069G>C	c.(1069-1071)Gag>Cag	p.E357Q	TMEM53_ENST00000372244.3_3'UTR|TMEM53_ENST00000372243.3_3'UTR|TMEM53_ENST00000372242.3_3'UTR|RNF220_ENST00000443020.2_Missense_Mutation_p.E144Q|RNF220_ENST00000372247.2_Missense_Mutation_p.E357Q|RNF220_ENST00000361799.2_Missense_Mutation_p.E357Q			Q5VTB9	RN220_HUMAN	ring finger protein 220	357					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TGAGGAGTATGAGTGGTGTGG	0.557000													29	57					0	0	1	0	0
FBXO9	26268	broad.mit.edu	37	6	52962551	52962551	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr6:52962551G>C	ENST00000244426.6	+	12	1439	c.1267G>C	c.(1267-1269)Gag>Cag	p.E423Q	FBXO9_ENST00000323557.7_Missense_Mutation_p.E413Q|FBXO9_ENST00000370939.3_Missense_Mutation_p.E379Q	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	423						ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					CAGTGCTTTTGAGATTGACAA	0.408000													6	9					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139889313	139889313	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr5:139889313C>T	ENST00000297183.6	+	21	3981	c.3857C>T	c.(3856-3858)cCc>cTc	p.P1286L	ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1286L|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1286L	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTAATGCTCCCCCTGTGCCT	0.433000													19	20					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67454411	67454411	+	Missense_Mutation	SNP	T	T	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chrX:67454411T>A	ENST00000355520.5	-	6	1045	c.404A>T	c.(403-405)gAa>gTa	p.E135V	OPHN1_ENST00000540071.1_Missense_Mutation_p.E135V	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	135					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						ACCATCCTTTTCAAATTTCTT	0.388000													36	44					0	0	1	0	0
HYOU1	10525	broad.mit.edu	37	11	118923537	118923537	+	Missense_Mutation	SNP	C	C	G			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr11:118923537C>G	ENST00000404233.3	-	9	923	c.799G>C	c.(799-801)Gac>Cac	p.D267H	HYOU1_ENST00000525859.1_Missense_Mutation_p.D267H|HYOU1_ENST00000529972.1_Missense_Mutation_p.D267H|HYOU1_ENST00000543287.1_Missense_Mutation_p.D180H	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	267						endoplasmic reticulum lumen	ATP binding|protein binding			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)		AGGGTACGGTCAAATCTGTTG	0.562000													5	16					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74611105	74611105	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr18:74611105G>A	ENST00000253159.8	+	11	2013	c.1815G>A	c.(1813-1815)aaG>aaA	p.K605K	ZNF236_ENST00000320610.9_Silent_p.K607K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	605					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AACCTGCAAAGGTCCGTGTTG	0.428000													21	23					0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93680430	93680430	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:93680430G>A	ENST00000343253.7	+	12	2125	c.1623G>A	c.(1621-1623)ttG>ttA	p.L541L	CCDC18_ENST00000338949.4_Silent_p.L341L|CCDC18_ENST00000401026.3_Silent_p.L542L|CCDC18_ENST00000557479.1_Silent_p.L660L|CCDC18_ENST00000334652.5_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	541										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		ATTCTGATTTGAAGGTTAACA	0.383000													5	41					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55381367	55381367	+	Missense_Mutation	SNP	T	T	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr6:55381367T>C	ENST00000398661.2	-	5	553	c.422A>G	c.(421-423)cAt>cGt	p.H141R	HMGCLL1_ENST00000274901.4_Missense_Mutation_p.H111R|HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000370850.2_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	141							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGGATATTGATGAATGCCTTT	0.353000													24	33					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74497001	74497001	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr6:74497001G>A	ENST00000437994.2	+	21	2813	c.2382G>A	c.(2380-2382)atG>atA	p.M794I	CD109_ENST00000422508.2_Missense_Mutation_p.M717I|CD109_ENST00000287097.5_Missense_Mutation_p.M794I	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	794						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATATTCTAATGACTTCAAATG	0.383000													17	28					0	0	1	0	0
FDCSP	260436	broad.mit.edu	37	4	71099864	71099864	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr4:71099864C>T	ENST00000317987.5	+	4	330	c.218C>T	c.(217-219)cCt>cTt	p.P73L		NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN	follicular dendritic cell secreted protein	73	Pro-rich.					extracellular region											ATTCCAATACCTGAATCTGCC	0.393000													15	64					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244617	56244617	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr19:56244617C>T	ENST00000332836.2	-	2	607	c.580G>A	c.(580-582)Gca>Aca	p.A194T		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	194	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTGGTCTCTGCGATACCGTTC	0.453000													3	13					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30749965	30749965	+	Missense_Mutation	SNP	G	G	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr16:30749965G>T	ENST00000262518.4	+	34	8989	c.8604G>T	c.(8602-8604)agG>agT	p.R2868S	SRCAP_ENST00000395059.2_Missense_Mutation_p.R2806S|SRCAP_ENST00000344771.4_Missense_Mutation_p.R2710S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2868	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGAAGAACAGGTCTCCAGCAG	0.612000													8	36					0.00307968	0.00309246	1	1	0
C3orf20	84077	broad.mit.edu	37	3	14744669	14744669	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr3:14744669C>T	ENST00000253697.3	+	6	1230	c.778C>T	c.(778-780)Ccg>Tcg	p.P260S	C3orf20_ENST00000435614.1_Missense_Mutation_p.P138S|C3orf20_ENST00000412910.1_Missense_Mutation_p.P138S	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	260						cytoplasm|integral to membrane		p.P260S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TGTCAGCATGCCGCCCCTGCA	0.567000													4	177					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529498	80529498	+	Missense_Mutation	SNP	T	T	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr2:80529498T>A	ENST00000295057.3	-	2	2103	c.1447A>T	c.(1447-1449)Atg>Ttg	p.M483L	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.M483L|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	483						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TGGGCAGACATGGCAGCCATC	0.542000										HNSCC(69;0.2)			12	31					0	0	1	0	0
FOXO4	4303	broad.mit.edu	37	X	70316779	70316779	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chrX:70316779C>T	ENST00000374259.3	+	1	733	c.401C>T	c.(400-402)aCt>aTt	p.T134I	FOXO4_ENST00000466874.1_3'UTR|FOXO4_ENST00000341558.3_Missense_Mutation_p.T79I	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	134					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					ATGGTCCGTACTGTACCCTAC	0.522000													5	11					0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99169962	99169962	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr8:99169962G>A	ENST00000401707.2	+	16	2619	c.2538G>A	c.(2536-2538)ctG>ctA	p.L846L	POP1_ENST00000349693.3_Silent_p.L846L	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	846					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AGGCTTGCCTGTCCATCTTGG	0.642000													16	32					0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96875688	96875688	+	Silent	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr15:96875688C>T	ENST00000394166.3	+	1	1743	c.354C>T	c.(352-354)aaC>aaT	p.N118N	NR2F2_ENST00000421109.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	118	Interaction with ZFPM2 (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCCGCGCCAACCGGAACTGTC	0.607000													14	13					0	0	1	0	0
GNAI3	2773	broad.mit.edu	37	1	110129355	110129355	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:110129355G>A	ENST00000369851.4	+	7	835	c.725G>A	c.(724-726)cGa>cAa	p.R242Q		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	242					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		TTTCAGAACCGAATGCATGAA	0.318000													12	22					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151962220	151962220	+	Missense_Mutation	SNP	C	C	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr7:151962220C>A	ENST00000355193.2	-	8	1305	c.1087G>T	c.(1087-1089)Ggt>Tgt	p.G363C	KMT2C_ENST00000262189.6_Missense_Mutation_p.G363C					lysine (K)-specific methyltransferase 2C																		TAGTGCTGACCACAAGTAGTA	0.448000													22	302					1.42536e-11	1.51288e-11	1	1	0
HDAC9	9734	broad.mit.edu	37	7	18633643	18633643	+	Silent	SNP	C	C	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr7:18633643C>A	ENST00000406451.4	+	6	796	c.646C>A	c.(646-648)Cga>Aga	p.R216R	HDAC9_ENST00000428307.2_Silent_p.R216R|HDAC9_ENST00000432645.2_Silent_p.R216R|HDAC9_ENST00000401921.1_Silent_p.R219R|HDAC9_ENST00000405010.3_Silent_p.R216R|HDAC9_ENST00000524023.1_Silent_p.R183R|HDAC9_ENST00000456174.2_Silent_p.R188R|HDAC9_ENST00000417496.2_Silent_p.R258R|HDAC9_ENST00000406072.1_Silent_p.R247R|HDAC9_ENST00000441542.2_Silent_p.R219R	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9		Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTTCCCCCTTCGAAAAACTGG	0.423000													15	44					2.32078e-09	2.4313e-09	1	1	0
FLNA	2316	broad.mit.edu	37	X	153588177	153588177	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chrX:153588177G>A	ENST00000422373.1	-	23	4150	c.3902C>T	c.(3901-3903)tCa>tTa	p.S1301L	FLNA_ENST00000344736.4_Missense_Mutation_p.S1301L|FLNA_ENST00000360319.4_Missense_Mutation_p.S1301L|FLNA_ENST00000369850.3_Missense_Mutation_p.S1301L	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1301					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGTTGCCTGAGGGGTTGGC	0.637000													28	51					0	0	1	0	0
ELF4	2000	broad.mit.edu	37	X	129200942	129200942	+	Missense_Mutation	SNP	C	C	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chrX:129200942C>A	ENST00000308167.5	-	9	2125	c.1746G>T	c.(1744-1746)caG>caT	p.Q582H	ELF4_ENST00000335997.7_Missense_Mutation_p.Q582H	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	582					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGGAAACCACCTGGGTTGGAA	0.612000			T	ERG	AML								43	90					3.05275e-18	3.34283e-18	1	1	0
MASP1	5648	broad.mit.edu	37	3	186969531	186969531	+	Missense_Mutation	SNP	C	C	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr3:186969531C>A	ENST00000337774.5	-	7	1291	c.902G>T	c.(901-903)tGc>tTc	p.C301F	MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.C275F|MASP1_ENST00000169293.6_Missense_Mutation_p.C301F|MASP1_ENST00000392472.2_Missense_Mutation_p.C188F|MASP1_ENST00000296280.6_Missense_Mutation_p.C301F	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	301	Sushi 1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TAGCTCTGGGCACTCATTTCC	0.493000													4	64					0.184627	0.184627	1	1	0
WDR27	253769	broad.mit.edu	37	6	170033160	170033160	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr6:170033160G>A	ENST00000333572.6	-	21	2625	c.2106C>T	c.(2104-2106)atC>atT	p.I702I	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Silent_p.I702I|WDR27_ENST00000423258.1_Silent_p.I575I			A2RRH5	WDR27_HUMAN	WD repeat domain 27	672										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CTGCGAGTACGATGTCTGCGA	0.522000													7	11					0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43872565	43872565	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr13:43872565C>T	ENST00000261488.6	-	12	1940	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	ENOX1_ENST00000412891.1_Missense_Mutation_p.E455K	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	455					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.E455*(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		AAAAGCTGTTCTTTTTCTTGT	0.527000													53	68					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8174182	8174182	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr19:8174182C>T	ENST00000600128.1	-	36	4961	c.4547G>A	c.(4546-4548)cGa>cAa	p.R1516Q	FBN3_ENST00000270509.2_Missense_Mutation_p.R1516Q|FBN3_ENST00000601739.1_Missense_Mutation_p.R1516Q			Q75N90	FBN3_HUMAN	fibrillin 3	1516	TB 6.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCAGGAAGCTCGGGTGACACC	0.627000													7	37					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203802941	203802941	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:203802941G>A	ENST00000545588.1	+	9	4661	c.834G>A	c.(832-834)ttG>ttA	p.L278L	ZC3H11A_ENST00000367210.1_Silent_p.L278L|ZC3H11A_ENST00000332127.4_Silent_p.L278L|ZC3H11A_ENST00000367214.1_Silent_p.L278L|ZC3H11A_ENST00000367212.3_Silent_p.L278L	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	278							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGGTTAGATTGAGTCTTACTG	0.343000													54	42					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68251882	68251882	+	Silent	SNP	G	G	C	rs143878844		TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr14:68251882G>C	ENST00000347230.4	-	19	3555	c.3417C>G	c.(3415-3417)ggC>ggG	p.G1139G	ZFYVE26_ENST00000555452.1_Silent_p.G1139G	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1139					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGGTCTGTTTGCCCAGGTTCT	0.572000													27	14					0	0	1	0	0
IL10RA	3587	broad.mit.edu	37	11	117860157	117860157	+	Splice_Site	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr11:117860157G>A	ENST00000227752.3	+	3	309	c.189G>A	c.(187-189)agG>agA	p.R63R	IL10RA_ENST00000545409.1_Intron|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Splice_Site_p.R43R	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	63						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ATCTCCTCAGGTATGGAATAG	0.532000													10	31					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43798960	43798960	+	Silent	SNP	C	C	G			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr2:43798960C>G	ENST00000403856.1	-	14	2097	c.1950G>C	c.(1948-1950)cgG>cgC	p.R650R	THADA_ENST00000405975.2_Silent_p.R650R|THADA_ENST00000404790.1_Silent_p.R650R|THADA_ENST00000405006.4_Silent_p.R650R|THADA_ENST00000415080.2_Silent_p.R360R|THADA_ENST00000330266.7_Silent_p.R360R|THADA_ENST00000402360.2_Silent_p.R650R			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	650							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTTCTGTGCTCCGATTACTTT	0.358000													27	46					0	0	1	0	0
CMTM1	113540	broad.mit.edu	37	16	66600817	66600817	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr16:66600817C>T	ENST00000379500.2	+	1	468	c.401C>T	c.(400-402)tCg>tTg	p.S134L	CMTM1_ENST00000328020.6_Missense_Mutation_p.S134L|CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000533953.1_Missense_Mutation_p.S134L|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000457188.2_Intron|CMTM1_ENST00000531885.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000535705.1_Intron	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	13	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		TTCTCCTTCTCGCCCACTGGA	0.567000													11	26					0	0	1	0	0
KLHL10	317719	broad.mit.edu	37	17	40004217	40004217	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr17:40004217G>A	ENST00000293303.4	+	5	1638	c.1485G>A	c.(1483-1485)agG>agA	p.R495R		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	495						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				ATCGACTTAGGAGTGCCGAAG	0.488000													25	42					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120193094	120193094	+	Silent	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr4:120193094C>T	ENST00000450251.1	+	12	2623	c.2079C>T	c.(2077-2079)caC>caT	p.H693H	USP53_ENST00000274030.6_Silent_p.H693H			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	693					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GCAGTGATCACATCAGTAATG	0.393000													9	61					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436880	248436880	+	Missense_Mutation	SNP	C	C	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:248436880C>A	ENST00000318021.2	-	1	258	c.237G>T	c.(235-237)atG>atT	p.M79I		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	79					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)			AGTCAGCCGCCATTTTGGGCA	0.572000													39	54					2.81731e-22	3.12747e-22	1	1	0
CHD8	57680	broad.mit.edu	37	14	21869098	21869098	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr14:21869098C>T	ENST00000399982.2	-	21	4370	c.4306G>A	c.(4306-4308)Gac>Aac	p.D1436N	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.D1157N|CHD8_ENST00000557364.1_Missense_Mutation_p.D1436N	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1436					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGATGACGGTCATGTCTGCGG	0.498000													14	15					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62631492	62631492	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr3:62631492G>A	ENST00000383710.4	-	6	1579	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	CADPS_ENST00000490353.2_Silent_p.L410L|CADPS_ENST00000283269.9_Silent_p.L410L|CADPS_ENST00000357948.3_Silent_p.L410L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	410	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCAAAGATTTGAGGCCTTGGA	0.468000													13	62					0	0	1	0	0
MEF2C	4208	broad.mit.edu	37	5	88018477	88018477	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr5:88018477C>T	ENST00000504921.2	-	10	2038	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	MEF2C_ENST00000340208.5_Missense_Mutation_p.E466K|MEF2C_ENST00000510942.1_Missense_Mutation_p.E448K|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000508569.1_Missense_Mutation_p.E416K|MEF2C_ENST00000514028.1_Missense_Mutation_p.E456K|MEF2C_ENST00000514015.1_Missense_Mutation_p.E424K|MEF2C_ENST00000424173.2_Missense_Mutation_p.E446K|MEF2C_ENST00000506554.1_3'UTR|MEF2C_ENST00000539796.1_Missense_Mutation_p.E400K|MEF2C_ENST00000437473.2_Missense_Mutation_p.E456K			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	456					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.E456K(2)|p.E446K(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CTTTCCCTTTCGTCCGGCGAA	0.498000										HNSCC(66;0.2)			73	40					0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38109676	38109676	+	Missense_Mutation	SNP	C	C	G			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr8:38109676C>G	ENST00000397166.2	+	13	2013	c.1488C>G	c.(1486-1488)atC>atG	p.I496M	DDHD2_ENST00000529845.1_5'UTR|DDHD2_ENST00000520272.2_Missense_Mutation_p.I496M|DDHD2_ENST00000517385.1_Missense_Mutation_p.I115M	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	496	DDHD.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			CCCGGCTCATCTATAAACCAG	0.388000													65	129					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123657463	123657463	+	Silent	SNP	C	C	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chrX:123657463C>A	ENST00000422452.2	-	17	2847	c.2784G>T	c.(2782-2784)gtG>gtT	p.V928V	TENM1_ENST00000371130.3_Silent_p.V928V	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CACCGATGGCCACGAGGTCAA	0.398000													13	31					7.93312e-07	8.16943e-07	1	1	0
USP34	9736	broad.mit.edu	37	2	61430332	61430332	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr2:61430332G>C	ENST00000398571.2	-	75	9527	c.9451C>G	c.(9451-9453)Cta>Gta	p.L3151V		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3151					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CGGCATAATAGATGGATGAAC	0.328000													23	34					0	0	1	0	0
TMCO3	55002	broad.mit.edu	37	13	114202656	114202656	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr13:114202656G>A	ENST00000434316.2	+	12	2168	c.1809G>A	c.(1807-1809)ccG>ccA	p.P603P	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	603						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TCATTCTGCCGAGGAGCAGCC	0.587000													11	31					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123654563	123654563	+	Silent	SNP	C	C	G			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chrX:123654563C>G	ENST00000422452.2	-	18	3168	c.3105G>C	c.(3103-3105)ggG>ggC	p.G1035G	TENM1_ENST00000371130.3_Silent_p.G1035G	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GGGTTTTATACCCAGGGGTGC	0.458000													27	57					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8222699	8222699	+	Missense_Mutation	SNP	C	C	G			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr17:8222699C>G	ENST00000361926.3	+	14	2366	c.2256C>G	c.(2254-2256)atC>atG	p.I752M	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.I752M	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	752					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CAGACACCATCTATGAGGACT	0.532000													36	58					0	0	1	0	0
ARMCX3	51566	broad.mit.edu	37	X	100880625	100880625	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chrX:100880625C>T	ENST00000341189.4	+	5	1522	c.656C>T	c.(655-657)tCt>tTt	p.S219F	ARMCX3_ENST00000537169.1_Missense_Mutation_p.S219F|ARMCX3_ENST00000471229.2_Missense_Mutation_p.S219F	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	219						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						TTGAACTCATCTGTGCAGCTT	0.383000													16	65					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55142194	55142194	+	Missense_Mutation	SNP	C	C	G			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr6:55142194C>G	ENST00000370862.3	+	5	1115	c.779C>G	c.(778-780)tCt>tGt	p.S260C		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	260					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGAACATCATCTGTAGTTCAG	0.488000													10	24					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19507020	19507020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chrX:19507020G>A	ENST00000338883.4	-	2	426	c.427C>T	c.(427-429)Cga>Tga	p.R143*		NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	143							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AAGCTTTCTCGGACTCCAAGA	0.488000													29	39					0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32616910	32616910	+	Nonsense_Mutation	SNP	C	C	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr22:32616910C>A	ENST00000266086.4	-	14	1776	c.1765G>T	c.(1765-1767)Gaa>Taa	p.E589*	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	589					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATATTACCTTCTTCAACACCA	0.408000													34	57					2.47316e-13	2.66002e-13	1	1	0
SSTR4	6754	broad.mit.edu	37	20	23016426	23016426	+	Missense_Mutation	SNP	C	C	G			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr20:23016426C>G	ENST00000255008.3	+	1	370	c.306C>G	c.(304-306)ttC>ttG	p.F102L	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	102					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCGTGCCCTTCGTGGCCTCGT	0.632000													46	66					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128626023	128626023	+	Missense_Mutation	SNP	A	A	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chrX:128626023A>T	ENST00000371122.4	-	14	1839	c.1710T>A	c.(1708-1710)ttT>ttA	p.F570L	SMARCA1_ENST00000371121.3_Missense_Mutation_p.F558L|SMARCA1_ENST00000371123.1_Missense_Mutation_p.F558L	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	570	Helicase C-terminal.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TACTTAGCATAAAGATGAATT	0.358000													53	130					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76386922	76386922	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr6:76386922G>A	ENST00000370014.3	+	14	2417	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	SENP6_ENST00000541192.1_Missense_Mutation_p.E196K|SENP6_ENST00000447266.2_Missense_Mutation_p.E600K|SENP6_ENST00000327284.8_Missense_Mutation_p.E593K|SENP6_ENST00000370010.2_Missense_Mutation_p.E593K	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	600					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AAGAACCTATGAAGAGAGCAT	0.294000													18	31					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156838002	156838002	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:156838002G>C	ENST00000368196.3	+	5	655	c.535G>C	c.(535-537)Ggg>Cgg	p.G179R	NTRK1_ENST00000524377.1_Missense_Mutation_p.G179R|NTRK1_ENST00000392302.2_Missense_Mutation_p.G149R|NTRK1_ENST00000358660.3_Missense_Mutation_p.G179R	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	179	LRRCT.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GCAGTGTCATGGGCAAGGGCC	0.652000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			20	13					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49037883	49037883	+	Missense_Mutation	SNP	T	T	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr13:49037883T>A	ENST00000267163.4	+	21	2261	c.2123T>A	c.(2122-2124)aTg>aAg	p.M708K		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	708	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)|p.I703_E737del(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGTGTTCCATGTATGGCATA	0.299000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			16	38					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49047507	49047507	+	Nonsense_Mutation	SNP	C	C	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr13:49047507C>A	ENST00000267163.4	+	24	2639	c.2501C>A	c.(2500-2502)tCa>tAa	p.S834*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	834	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)|p.R830fs*8(1)|p.S834*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATCTTAGTATCAATTGGTGAA	0.259000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			32	66					2.48696e-23	2.78631e-23	1	1	0
FRAS1	80144	broad.mit.edu	37	4	79399118	79399118	+	Silent	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr4:79399118C>T	ENST00000264895.6	+	55	8441	c.8001C>T	c.(7999-8001)atC>atT	p.I2667I		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2662	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGGTCATTATCAACGATACCG	0.453000													9	6					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38949890	38949890	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr5:38949890G>A	ENST00000357387.3	-	31	4090	c.4060C>T	c.(4060-4062)Cca>Tca	p.P1354S	RICTOR_ENST00000296782.5_Missense_Mutation_p.P1354S	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1354					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCTTTTGCTGGAGATGCCAAA	0.393000													94	70					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380668	147380668	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:147380668G>A	ENST00000240986.4	+	2	639	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	GJA8_ENST00000369235.1_Missense_Mutation_p.V196M	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	196					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGACTGCTTCGTGTCCCGGCC	0.597000													13	74					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48158623	48158623	+	Missense_Mutation	SNP	T	T	G			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr11:48158623T>G	ENST00000418331.2	+	10	2294	c.1942T>G	c.(1942-1944)Ttt>Gtt	p.F648V		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	648	Fibronectin type-III 7.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTGGCAGAACTTTGATGACGC	0.428000													21	72					0	0	1	0	0
HOXC9	3225	broad.mit.edu	37	12	54394009	54394009	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr12:54394009G>A	ENST00000303450.4	+	1	107	c.37G>A	c.(37-39)Gac>Aac	p.D13N	HOXC9_ENST00000508190.1_Missense_Mutation_p.D13N|HOXC9_ENST00000504557.1_Intron|RP11-834C11.12_ENST00000513209.1_Intron	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	13					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						CTATTACGTGGACTCGCTCAT	0.527000													19	26					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78796046	78796046	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr17:78796046G>A	ENST00000306801.3	+	8	1298	c.936G>A	c.(934-936)ctG>ctA	p.L312L	RPTOR_ENST00000570891.1_Silent_p.L312L|RPTOR_ENST00000537330.1_Silent_p.L127L|RPTOR_ENST00000544334.2_Silent_p.L312L|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	312					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TGGGTGAACTGAACTGGATCT	0.622000													72	127					0	0	1	0	0
ENOX2	10495	broad.mit.edu	37	X	129803977	129803977	+	Nonsense_Mutation	SNP	G	G	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chrX:129803977G>C	ENST00000338144.3	-	8	1160	c.743C>G	c.(742-744)tCa>tGa	p.S248*	ENOX2_ENST00000370935.1_Nonsense_Mutation_p.S219*|ENOX2_ENST00000370927.1_Nonsense_Mutation_p.S248*|ENOX2_ENST00000394363.1_Nonsense_Mutation_p.S219*	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	248					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTCATGATCTGAATAGTGGAC	0.418000													25	43					0	0	1	0	0
ZRSR2	8233	broad.mit.edu	37	X	15821824	15821824	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chrX:15821824G>A	ENST00000307771.7	+	4	241	c.217G>A	c.(217-219)Gag>Aag	p.E73K	ZRSR2_ENST00000468028.1_3'UTR	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	73					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					AAGATTACATGAGGAGTGGTT	0.383000			"""F, S, Mis"""		"""MDS, CLL"""								7	2					0	0	1	0	0
RIN2	54453	broad.mit.edu	37	20	19955675	19955675	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr20:19955675G>C	ENST00000255006.6	+	8	1302	c.1153G>C	c.(1153-1155)Gaa>Caa	p.E385Q	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	336					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GAGCATGCCAGAAACAGTCAA	0.587000													12	39					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118352585	118352585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr11:118352585C>T	ENST00000534358.1	+	7	3813	c.3790C>T	c.(3790-3792)Cga>Tga	p.R1264*	KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R1264*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R1264*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GCCTCCTCCACGAAAGCCCGT	0.542000													10	27					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13792244	13792244	+	Silent	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr5:13792244C>T	ENST00000265104.4	-	50	8411	c.8307G>A	c.(8305-8307)ctG>ctA	p.L2769L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2769	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCGGCGTGTCAGAGGCACCA	0.463000									Kartagener syndrome				6	104					0	0	1	0	0
GEMIN4	50628	broad.mit.edu	37	17	650531	650531	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr17:650531G>A	ENST00000576778.1	-	1	2060	c.719C>T	c.(718-720)gCg>gTg	p.A240V	GEMIN4_ENST00000437269.1_Intron|GEMIN4_ENST00000319004.5_Missense_Mutation_p.A251V			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	251					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTCTGTCAGCGCAAACACAGT	0.607000													74	21					0	0	1	0	0
ARMCX3	51566	broad.mit.edu	37	X	100880170	100880170	+	Missense_Mutation	SNP	C	C	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chrX:100880170C>A	ENST00000341189.4	+	5	1067	c.201C>A	c.(199-201)agC>agA	p.S67R	ARMCX3_ENST00000537169.1_Missense_Mutation_p.S67R|ARMCX3_ENST00000471229.2_Missense_Mutation_p.S67R	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	67						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATGATGACAGCAATGAGAGCA	0.547000													14	112					0.000219431	0.000222186	1	1	0
HOXB1	3211	broad.mit.edu	37	17	46607027	46607027	+	Missense_Mutation	SNP	C	C	G			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr17:46607027C>G	ENST00000239174.6	-	2	880	c.788G>C	c.(787-789)cGa>cCa	p.R263P	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	263						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACCTTCCTCTCGCTCGCGCTT	0.632000													42	70					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21868716	21868716	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr14:21868716C>T	ENST00000399982.2	-	22	4490	c.4426G>A	c.(4426-4428)Gaa>Aaa	p.E1476K	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.E1197K|CHD8_ENST00000557364.1_Missense_Mutation_p.E1476K	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1476					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ACATCTCGTTCAGTCATACGT	0.413000													10	8					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155736232	155736232	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:155736232G>C	ENST00000437809.1	-	21	3154	c.3032C>G	c.(3031-3033)tCt>tGt	p.S1011C	GON4L_ENST00000271883.5_Missense_Mutation_p.S1011C|GON4L_ENST00000361040.5_Missense_Mutation_p.S1011C|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Missense_Mutation_p.S1011C	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1011					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGGCTGGAGAGAGGGGCTGGG	0.562000													15	66					0	0	1	0	0
PDIA4	9601	broad.mit.edu	37	7	148709080	148709080	+	Missense_Mutation	SNP	C	C	G			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr7:148709080C>G	ENST00000286091.4	-	6	1069	c.837G>C	c.(835-837)atG>atC	p.M279I		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	279	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			ACTGCTCGATCATGTAATCAA	0.582000													16	22					0	0	1	0	0
RAP2C	57826	broad.mit.edu	37	X	131351113	131351113	+	Missense_Mutation	SNP	C	C	G			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chrX:131351113C>G	ENST00000342983.2	-	2	930	c.184G>C	c.(184-186)Gag>Cag	p.E62Q	RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.E62Q	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	62					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					GCAAACTGCTCAGTTCCTGCG	0.463000													37	81					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11270889	11270889	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:11270889G>A	ENST00000361445.4	-	24	3712	c.3636C>T	c.(3634-3636)ctC>ctT	p.L1212L		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1212					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TTCTGCAGATGAGCACATCAT	0.403000													15	31					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													5	135					0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122928453	122928453	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr11:122928453C>T	ENST00000534624.1	-	9	2206	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	HSPA8_ENST00000526110.1_Missense_Mutation_p.E625K|HSPA8_ENST00000532636.1_Missense_Mutation_p.E644K|HSPA8_ENST00000453788.2_Missense_Mutation_p.E491K|HSPA8_ENST00000533540.1_Missense_Mutation_p.E498K|HSPA8_ENST00000534319.1_Missense_Mutation_p.E408K|HSPA8_ENST00000227378.3_Missense_Mutation_p.E644K	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	644					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TAATCAACCTCTTCAATGGTG	0.483000													10	32					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105193617	105193617	+	Missense_Mutation	SNP	G	G	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chrX:105193617G>T	ENST00000428173.2	+	27	4710	c.4407G>T	c.(4405-4407)ttG>ttT	p.L1469F	NRK_ENST00000243300.9_Missense_Mutation_p.L1468F|NRK_ENST00000540278.1_Missense_Mutation_p.L49F			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1468	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTGATTGCTTGGGAATTGGCA	0.368000										HNSCC(51;0.14)			11	51					3.07112e-06	3.13591e-06	1	1	0
PRKCB	5579	broad.mit.edu	37	16	24043464	24043464	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr16:24043464G>A	ENST00000303531.7	+	4	448	c.296G>A	c.(295-297)cGc>cAc	p.R99H	PRKCB_ENST00000321728.7_Missense_Mutation_p.R99H	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	99					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CAGGACCCCCGCAGCAAACAC	0.532000													6	51					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105795292	105795292	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr10:105795292G>A	ENST00000353479.5	-	49	3738	c.3448C>T	c.(3448-3450)Ccc>Tcc	p.P1150S	COL17A1_ENST00000369733.3_Missense_Mutation_p.P1105S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1150	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGCCCCGGGGGACCAGGAAGC	0.612000													8	8					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49700765	49700765	+	Missense_Mutation	SNP	C	C	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr3:49700765C>T	ENST00000296452.4	+	7	11288	c.11174C>T	c.(11173-11175)tCc>tTc	p.S3725F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3725					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAGAAGGGCTCCCGGCAAGCC	0.637000													17	26					0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	141832393	141832393	+	Missense_Mutation	SNP	G	G	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr4:141832393G>A	ENST00000515673.2	-	6	1136	c.1103C>T	c.(1102-1104)aCt>aTt	p.T368I	RNF150_ENST00000420921.2_Missense_Mutation_p.T227I|RNF150_ENST00000379512.2_Missense_Mutation_p.T227I|RNF150_ENST00000306799.3_Missense_Mutation_p.T326I|RNF150_ENST00000507500.1_Missense_Mutation_p.T368I			Q9ULK6	RN150_HUMAN	ring finger protein 150							integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					AGGGTCCAAAGTGACTGAACT	0.562000													6	24					0	0	1	0	0
MTHFD2	10797	broad.mit.edu	37	2	74438990	74438990	+	Missense_Mutation	SNP	G	G	C			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr2:74438990G>C	ENST00000394053.2	+	7	966	c.886G>C	c.(886-888)Gaa>Caa	p.E296Q	MTHFD2_ENST00000394050.3_Missense_Mutation_p.E132Q|MTHFD2_ENST00000409601.1_Intron|MTHFD2_ENST00000264090.4_Missense_Mutation_p.E194Q|MTHFD2_ENST00000409804.1_Missense_Mutation_p.E168Q|RP11-287D1.3_ENST00000451608.2_Intron	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	296					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TGTGGATTTTGAAGGTAAATG	0.303000													14	26					0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016427	23016427	+	Missense_Mutation	SNP	G	G	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr20:23016427G>T	ENST00000255008.3	+	1	371	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	103					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGTGCCCTTCGTGGCCTCGTC	0.637000													45	68					2.64894e-19	2.91384e-19	1	1	0
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs58784721		TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485													2	4	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27087932	27087940	+	In_Frame_Del	DEL	CCATGAACC	CCATGAACC	-	rs139157793		TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:27087932_27087940delCCATGAACC	ENST00000324856.7	+	6	2590_2598	c.2219_2227delCCATGAACC	c.(2218-2229)tccatgaaccaa>taa	p.740_743SMNQ>*	ARID1A_ENST00000457599.2_In_Frame_Del_p.740_743SMNQ>*|ARID1A_ENST00000374152.2_In_Frame_Del_p.357_360SMNQ>*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	740					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATGCATCCTTCCATGAACCAATCAAGCAT	0.545			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								10	34	---	---	---	---					
PKLR	5313	broad.mit.edu	37	1	155264371	155264371	+	Frame_Shift_Del	DEL	C	C	-			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:155264371delC	ENST00000392414.3	-	6	887	c.774delG	c.(772-774)cggfs	p.R258fs	PKLR_ENST00000342741.4_Frame_Shift_Del_p.R289fs	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	289					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CGCTGGCTTTCCGCACAAAGG	0.622													19	27	---	---	---	---					
MROH9	80133	broad.mit.edu	37	1	170965731	170965731	+	Frame_Shift_Del	DEL	G	G	-			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr1:170965731delG	ENST00000367759.4	+	14	1575	c.1421delG	c.(1420-1422)tggfs	p.W474fs	MROH9_ENST00000367758.3_Frame_Shift_Del_p.W474fs	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		GAGAATTTCTGGGACCAGTTA	0.443													69	66	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2																						AAAGCATGAACTTACGGAATCT	0.401													4	3	---	---	---	---					
CCT6P1	643253	broad.mit.edu	37	7	65226568	65226569	+	RNA	INS	-	-	TT			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr7:65226568_65226569insTT	ENST00000442266.1	+	0	1167																											tgcccggccCCttttttttttt	0.411													2	4	---	---	---	---					
HEPACAM2	253012	broad.mit.edu	37	7	92848720	92848720	+	Frame_Shift_Del	DEL	G	G	-			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr7:92848720delG	ENST00000394468.2	-	2	201	c.124delC	c.(124-126)catfs	p.H42fs	HEPACAM2_ENST00000440868.1_Frame_Shift_Del_p.H30fs|HEPACAM2_ENST00000341723.4_Frame_Shift_Del_p.H30fs|HEPACAM2_ENST00000453812.2_Frame_Shift_Del_p.H65fs	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	42						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CTGACGCCATGGACAGTGTGT	0.512													15	46	---	---	---	---					
PTPRZ1	5803	broad.mit.edu	37	7	121653452	121653452	+	Frame_Shift_Del	DEL	C	C	-			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr7:121653452delC	ENST00000393386.2	+	12	4763	c.4352delC	c.(4351-4353)tcafs	p.S1451fs	PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1451					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TATAGAGAATCACAGGAAAAG	0.383													27	42	---	---	---	---					
OR52B4	143496	broad.mit.edu	37	11	4389521	4389521	+	Frame_Shift_Del	DEL	G	G	-			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr11:4389521delG	ENST00000408920.2	-	1	95	c.5delC	c.(4-6)cctfs	p.P2fs		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTTACAGTAGGCATAGCTGG	0.483													6	6	---	---	---	---					
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473134	22473134	+	RNA	DEL	C	C	-			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr15:22473134delC	ENST00000557788.2	-	0	136																											GCTGATGGAGCCACCAGAGAC	0.617													15	95	---	---	---	---					
TMCO5A	145942	broad.mit.edu	37	15	38239892	38239893	+	Frame_Shift_Ins	INS	-	-	A			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr15:38239892_38239893insA	ENST00000559502.1	+	11	834_835	c.663_664insA	c.(664-666)aaafs	p.K222fs	TMCO5A_ENST00000319669.4_Frame_Shift_Ins_p.K222fs|TMCO5A_ENST00000540944.1_Frame_Shift_Ins_p.K222fs			Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	222						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						GATTATTCAGTAAAAAGTAAGT	0.361													38	57	---	---	---	---					
TNRC6A	27327	broad.mit.edu	37	16	24807240	24807240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr16:24807240delA	ENST00000395799.3	+	9	3670	c.3541delA	c.(3541-3543)aaafs	p.K1182fs	TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1182	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTGAGTGGCAAAAAAAGGAG	0.398													7	269	---	---	---	---					
POTEC	388468	broad.mit.edu	37	18	14543030	14543030	+	Frame_Shift_Del	DEL	C	C	-			TCGA-5N-A9KI-01A-31D-A42E-08	TCGA-5N-A9KI-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32888bc7-dc48-44d6-877c-2f1fea1160b4	2db78279-e30c-4488-945a-d9634e24ea9f	g.chr18:14543030delC	ENST00000358970.5	-	1	115	c.116delG	c.(115-117)ggcfs	p.G39fs	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	39										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GTTGCTCTTGCCGCTCCCCTT	0.567													11	236	---	---	---	---